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PubMed1998

[The HLA-DR phenotype in Croatian children with gluten enteropathy].

Several studies of HLA and gluten enteropathy (GE) in European countries have found an association between this disease and certain DR phenotypes. However, no studies of DR phenotypes have been published in GE coming from Croatia. Therefore, we have studied HLA-A, B and DR specificities in 94 unrelated children with GE and in a group of healthy controls. In GE there was significant increase in the frequencies of A1 (61.70% v 24.50%; p < 0.0001) and B8 antigen (70.21% v 20.51%; p < 0.0001) compared with controls. The most frequent DR antigen was HLA-DR3 (87.23% v 18.82% in controls) with the relative risk of 29.65. The distribution of DR phenotypes in GE showed that the most frequent one was DR3/other DR (54.26%) and in decreasing order DR3/DR7 (17.02%), DR3/X (15.96%) and DR5/DR7 (8.51%). These phenotypes account for 95.75% of patients studied. A further 3.19% have DR4/DR5 phenotype. However, due to the frequency of certain antigen in controls, only phenotypes DR3/DR7 (relative risk: 28.92), DR3/X (relative risk: 13.29) and DR3/ other DR (relative risk: 10.04) were significantly associated with GE. The present study emphasizes the importance of studying the HLA-DR phenotypes in patients with GE.

Adolescent↗
PubMed1999

Interpretation of phenotype in genetically engineered mice.

BACKGROUND AND PURPOSE: In mice, genetic engineering involves two general approaches-addition of an exogenous gene, resulting in transgenic mice, and use of knockout mice, which have a targeted mutation of an endogenous gene. The advantages of these approaches is that questions can be asked about the function of a particular gene in a living mammalian organism, taking into account interactions among cells, tissues, and organs under normal, disease, injury, and stress situations. METHODS: Review of the literature concentrating principally on knockout mice and questions of unexpected phenotypes, lack of phenotype, redundancy, and effect of genetic background on phenotype will be discussed. CONCLUSION: There is little gene redundancy in mammals; knockout phenotypes exist even if none are immediately apparent; and investigating phenotypes in colonies of mixed genetic background may reveal not only more phenotypes, but also may lead to better understanding of the molecular or cellular mechanism underlying the phenotype and to discovery of modifier gene(s).

Animals↗
PubMed1999

Distribution and concordance of N-acetyltransferase genotype and phenotype in an American population.

Polymorphic arylamine N-acetyltransferase 2 (NAT2) status varies widely between individuals and ethnic groups and has been associated with susceptibility to several cancers. Few studies have reported the distribution of NAT2 status for Caucasian-American populations or evaluated the concordance between methods of assessment for cancer cases and controls. In our study, distribution of NAT2 status was classified by genotype and phenotype measurements in PANCAN, a population-based case-control study of pancreatic cancer, and concordance between measurements was evaluated for 33 cases and 222 controls. Major genotypes and alleles among controls were *5B/*6A, *5B/*5B, *4/*6A, and *5B/*4. One putative new allele was found in a single individual. Genotypes and phenotypes were classified as rapid or slow, according to a bimodal model. Presence of the *4 (wild-type) allele defined a NAT2 genotype as rapid. The NAT2 phenotype was analyzed by the caffeine assay. Ratios of 5-acetylamino-6-formylamino-3-methyluracil to 1-methylxanthine were determined, and individuals with values of > or =0.66 were identified as having a rapid phenotype. In our population, 58.1 and 59.5% of control subjects were classified as slow acetylators by phenotype and genotype, respectively. Concordance of NAT2 genotype and phenotype classification was 97.8% in the bimodal model. A similar analysis was completed for a trimodal model. Concordance of genotype and phenotype was high in cases (90.9%) and similar to controls; genotyping alone provided an efficient, accurate method of analysis for acetylator status. A comparison with two previous reports revealed subtle differences in genotype and allele distribution but exhibited overall similarity with other Caucasian-American populations.

Aged↗
PubMed2000

[Blood protein phenotypes and effectiveness of the treatment of patients with pulmonary tuberculosis].

Genetic polymorphism at 9 independent loci (HP, GC, TF, PI, PGM1, GLO1, C3, ACP1, and ESD) was studied in two groups of patients with pulmonary tuberculosis and healthy controls. The patients were subdivided into two subgroups depending on their response to chemotherapy: 1) responsive and 2) unresponsive to adequate chemotherapy. The control (Group 3) comprised 327-329 healthy persons; only 78 of them were phenotyped for ESD-locus. A pairwise comparison of arcsinus-transformed both phenotypic and allelic frequencies using t-test revealed significant differences between Groups 1 and 3 in phenotypes--GC 1F-1S, (P = 3.73 x 10(-4), C3 F-S (P = 4.10 x 10(-5), C3 S-S (P = 1.9 x 10(-6) and in alleles--C3*F (P = 4.2 x 10(-6), C3*S (P = 1.7 x 10(-6). These differences are reliable at the levels of significance, Pc corrected by all numbers of times, k, of independent pairwise comparisons (k = 126 for phenotypes, Pc = 0.00041; k = 60 for alleles, Pc = 0.000855). Differences between Groups 2 and 3 were significant as well: there were 8 P values both for phenotypes and alleles, which rejected the null-hypothesis at 5% significance while the expected numbers of times, kch, to reject the null-hypothesis by chance, were kch = 6.3 for phenotypes and kch = 3 for alleles. Differences between the two subgroups of patients were found to be insignificant because the P values were obtained, that rejected the null-hypothesis only 6 and 3 times for phenotypes and alleles, respectively. Principal component analysis showed that the GLO1 locus was not informative for the differences in the groups studied. The perspectives of further analysis of the data presented using the remaining 8 loci are discussed.

Adult↗
PubMed1998

Lipoprotein (a) concentration and apolipoprotein (a) phenotype in subjects with type 2 diabetes mellitus.

OBJECTIVE: To investigate the apolipoprotein (a) [apo(a)] polymorphism in the patients with type 2 diabetes mellitus and its relationship with complications. METHODS: In this study, we tested apo(a) phenotype via modified Utermann and Guo method in the 40 non-diabetic controls and 176 subjects with type 2 diabetes and analyzed the relationship between apo(a) phenotypes and micro- and macrovascular complications, including nephropathy, neuropathy, retinopathy, hypertension, coronary heart disease and cerebral infarction. RESULTS: Among the 40 non-diabetic controls, the frequencies of S3S2, S4 and S4S2 were 20%, 70% and 10% respectively and the serum lipoprotein (a) [Lp(a)] level was 0.08 +/- 0.07 mg/L. While the frequencies of S2, S3, S3S2, S4, S4S2, S4S3 were 18.18%, 20.45%, 17.05%, 34.09%, 4.55% and 5.68% in the diabetics and the Lp(a) concentration was 0.13 +/- 0.11 mg/L, with significant difference between the diabetics and non-diabetic controls. In comparison with the diabetics without complications, the frequency of apo(a) phenotype significantly differed in patients with nephropathy, nephropathy, hypertension, coronary heart disease and cerebral infarction except for diabetic retinopathy. In comparison with patients with S2 phenotype, the levels of fasting plasma glucose (FPG), 2-hour postprandial plasma glucose (2hPG) and glycated hemoglobin A1c (HbA1c) were lower in patients with S4 phenotype. The concentration of Lp(a) and urine albumin index (Alb/Cr) were significantly different among diabetics with different apo(a) phenotype, the highest being in patients with S2, secondly S3, and the lowest S4. CONCLUSION: There were significant differences in the frequency of apo(a) phenotype between subjects with type 2 diabetes and non-diabetic controls, and also in diabetics with or without microvascular and macrovascular diseases. The underlying linkage might be microalbuminuria and insulin resistance.

Adult↗
PubMedDate not supplied

[Phenotypic variability in P. vivax with short- and long-term incubation period].

The combined transmission of P. vivax phenotypes was studied. The phenotypes were determined by the duration of a latent parasitic development stage by comparing the intervals from first manifestations of malaria with short- and long-term incubations to its relapse. The study used data on 2493 patients treated with chloroquine (900 mg base for adults) alone at follow-ups in the North-Eastern Delhi (India) in 1988-1992. The combined transmission of P. vivax phenotypes was shown to differ in malaria with short- and long-term incubation. The P. vivax phenotype with manifestations on an average a year following infection in patients with mainly short-term incubation malaria and that with manifestations on an average year and a half after infection in a group of patients with primary long-term incubation malaria were significantly more frequently. Long-term incubation malaria shows simultaneously a larger number of phenotypes than does short-term incubation one. Patients with long-term incubation malaria display a combination of 2 phenotypes (6%) significantly less frequently than that of 3 different phenotypes or more (17%). The similar combinations were observed in the equal number of patients with short-term incubation malaria (7%).

Animals↗
PubMedDate not supplied

Relationship between V3 genotype, biologic phenotype, tropism, and coreceptor use for primary isolates of human immunodeficiency virus type 1.

OBJECTIVES: The predictive value of positively charged amino acids at positions 11 and 25 within the V3 loop region of the human immunodeficiency virus type 1 (HIV-1) envelope gene for the syncytium-inducing (SI) phenotype was assessed. STUDY DESIGN/METHODS: Sequencing was performed on DNA extracted from primary peripheral blood mononuclear cells (PBMCs) and complementary DNA (cDNA) prepared from serial viral isolates from 10 HIV-1-seropositive subjects. Proviral DNA sequencing was also performed on biologic clones from most of these subjects. RESULTS: Positive charge at position 11 and/or 25 in 257 isolate cDNA, PBMC DNA, and biologic clone PBMC DNA sequences was compared with 69 phenotypic determinations, of which 62.3% were SI. V3 genotype was 51.2% sensitive and 85.8% specific for the SI phenotype, with positive and negative predictive values of 62.8% and 79.0%, respectively. Cellular tropism failed to correlate with V3 genotype, coreceptor use, or biologic phenotype. Exclusive use of CCR5 was associated with the nonsyncytium-inducing (NSI) phenotype. Overall, V3 loop charge was higher in SI than in NSI isolates (5.01 and 3.78, respectively; p = 0.0211). CONCLUSIONS: The predictive power of SI phenotype from V3 genotype is relatively weak, especially in a low SI prevalence population. The direct measurement of viral phenotype, cellular tropism, and coreceptor use in HIV-1 isolates is essential for accurate biologic characterization.

Amino Acid Sequence↗
PubMed2001

Combined effects of well-done red meat, smoking, and rapid N-acetyltransferase 2 and CYP1A2 phenotypes in increasing colorectal cancer risk.

Heterocyclic amines (HAAs) are suspected carcinogens that are formed in meat when it is cooked at high temperature for long durations. These compounds require metabolic activation by CYP1A2 and N-acetyltransferase (NAT) 2 or NAT1 before they can bind to DNA. It has been hypothesized that well-done meat increases the risk of colorectal cancer (CRC), especially in individuals with the rapid phenotype for CYP1A2 and NAT2. This association may be particularly strong in smokers because smoking is known to induce CYP1A2. We conducted a population-based case-control study on Oahu, Hawaii to specifically test this hypothesis. An in-person interview assessed the diet and preference for well-done red meat of 349 patients with CRC and 467 population controls. A urine collection after caffeine challenge and a blood collection were used to assess phenotype for CYP1A2 and NAT2 and genotype for NAT2 and NAT1, respectively. No statistically significant main effect association with CRC was found for red meat intake, preference for well-done red meat, the NAT2 rapid genotype, the CYP1A2 rapid phenotype or the NAT1*10 allele. However, in ever-smokers, preference for well-done red meat was associated with an 8.8-fold increased risk of CRC (95% confidence interval, 1.7-44.9) among subjects with the NAT2 and CYP1A2 rapid phenotypes, compared with smokers with low NAT2 and CYP1A2 activities who preferred their red meat rare or medium. No similar association was found in never-smokers, and there was no increased risk for well-done meat among smokers with a rapid phenotype for only one of these enzymes or for smokers with both rapid phenotypes who did not prefer their red meat well-done. These data provide additional support to the hypothesis that exposure to carcinogens (presumably HAAs) through consumption of well-done meat increases the risk of CRC, particularly in individuals who are genetically susceptible (as determined by a rapid phenotype for both NAT2 and CYP1A2) and suggest that smoking, by inducing CYP1A2, facilitates this effect.

Aged↗
PubMedDate not supplied

Lebanese population: prevalence of the erythrocyte phenotypes.

STUDY OBJECTIVES: This survey was designed to be a descriptive study of the erythrocyte phenotype prevalence in Lebanon. The general aim was to provide transfusion centers and blood banks with the occurrence of the nation's erythrocyte phenotypes in the population they are serving. The results were descriptively compared to Caucasians. SUBJECTS AND METHODS: 632 blood samples were collected from the Lebanese population in the 5 muhafazats (regions). Of which, 350 samples were extensively phenotyped for the blood group systems ABO, Kell, Kidd, Duffy, MNS, Lewis, Lutheran and P; and 282 samples were selectively phenotyped for Fy(a), Fy(b) and Kp(a). Additionally, 3064 random blood donors were studied for the ABO and D blood groups. MAIN RESULTS: With respect to the blood group phenotypes, the Lebanese are similar to the Caucasian population with the exception of rr, Le(b), Le (a-b-), Fy (a-b-), M+N+S-s+ and M-N-S-s+. CONCLUSION: It is of scientific cognizance and interest that the Lebanese erythrocyte phenotypes closely resemble that of the Caucasians: nevertheless, certain novel differences are present, and possibly, there exists a phenotype that attributes to admixture of the African gene in a Middle Eastern population.

Arabs↗
PubMed2002

Coordinate changes in Myosin heavy chain isoform gene expression are selectively associated with alterations in dilated cardiomyopathy phenotype.

BACKGROUND: The most common cause of chronic heart failure in the US is secondary or primary dilated cardiomyopathy (DCM). The DCM phenotype exhibits changes in the expression of genes that regulate contractile function and pathologic hypertrophy. However, it is unclear if any of these alterations in gene expression are disease producing or modifying. MATERIALS AND METHODS: One approach to providing evidence for cause-effect of a disease-influencing gene is to quantitatively compare changes in phenotype to changes in gene expression by employing serial measurements in a longitudinal experimental design. We investigated the quantitative relationships between changes in gene expression and phenotype n 47 patients with idiopathic DCM. In endomyocardial biopsies at baseline and 6 months later, we measured mRNA expression of genes regulating contractile function (beta-adrenergic receptors, sarcoplasmic reticulum Ca(2) + ATPase, and alpha- and beta-myosin heavy chain isoforms) or associated with pathologic hypertrophy (beta-myosin heavy chain and atrial natriuretic peptide), plus beta-adrenergic receptor protein expression. Left ventricular phenotype was assessed by radionuclide ejection fraction. RESULTS: Improvement in DCM phenotype was directly related to a coordinate increase in alpha- and a decrease in beta-myosin heavy chain mRNA expression. In contrast, modification of phenotype was unrelated to changes in the expression of beta(1)- or beta(2)-adrenergic receptor mRNA or protein, or to the mRNA expression of sarcoplasmic reticulum Ca(2) + ATPase and atrial natriuretic peptide. CONCLUSION: We conclude that in human DCM, phenotypic modification is selectively associated with myosin heavy chain isoform changes. These data support the hypothesis that myosin heavy chain isoform changes contribute to disease progression in human DCM.

Antihypertensive Agents↗
PubMed2003

The glycolytic phenotype in carcinogenesis and tumor invasion: insights through mathematical models.

Malignant cells characteristically exhibit altered metabolic patterns when compared with normal mammalian cells with increased reliance on anaerobic metabolism of glucose to lactic acid even in the presence of abundant oxygen. The inefficiency of the anaerobic pathway is compensated by increased glucose flux, a phenomenon first noted by Otto Warburg approximately 80 years ago and currently exploited for 2-fluoro-2-deoxy-D-glucose-positron emission tomography imaging in clinical radiology. The latter has demonstrated the glycolytic phenotype is a near-universal phenomenon in human cancers. The potential role of the glycolytic phenotype in facilitating tumor invasion has been investigated through mathematical models of the tumor-host interface. Modified cellular automaton and diffusion reaction models demonstrate protons will diffuse from the tumor into peritumoral normal tissue subjecting nontransformed cells adjacent to the tumor edge to an extracellular pH significantly lower than normal. This leads to normal cell death via p53-dependent apoptosis pathways, as well as degradation of the interstitial matrix, loss of intercellular gap junctions, enhanced angiogenesis, and inhibition of the host immune response to tumor antigens. Transformed cells maintain their proliferative capacity in acidic extracellular pH because of mutations in p53 or some other component in the apoptosis pathways. This allows tumor cells to remain proliferative and migrate into the peritumoral normal tissue producing the invasive phenotype. Mathematical models of invasive cancer based on tumor-induced acidification are consistent with extant data on tumor microenvironment and results from clinical positron emission tomography imaging, including the observed correlation between tumor invasiveness and glucose utilization. Novel treatment approaches focused on perturbation of the tumor microenvironment are predicted from the mathematical models and are supported by recent clinical data demonstrating the benefits of azotemia and metabolic acidosis in survival of patients with metastatic renal cancer. The evolutionary basis for adoption of the glycolytic phenotype during carcinogenesis remains unclear because it appears to confer significant competitive disadvantages on the tumor cells due to of inefficient energy production and expenditure of resources to remove the acid byproducts. We propose that the glycolytic phenotype represents a successful adaptation to environmental selection parameters because it confers the ability to invade. That is, the glycolytic phenotype allows the cell to move from the microenvironment of a premalignant lesion to adjacent normal tissue. There it competes with normal cells that are less fit than the populations within the tumor in a microenvironment of relative substrate abundance. The consequent unrestrained proliferation allows the glycolytic phenotype to emerge simultaneous with the transition from a premalignant lesion to an invasive cancer.

Animals↗
PubMedDate not supplied

[Multiple change of phenotype, conjugated with the loss of yellow pigmentation of Erwinia herbicola].

It has been shown that the loss of yellow pigmentation (phenotype Crt) of nonphotosynthesizing epiphyte bacterium Erwinia herbicola is accompanied by the loss of prototrophicity (phenotype Thi). Most Crt Thi-variants change the character of sensitivity to temperate erwiniophage E105 and bacteriocins (phenotype Ph/Bn). Some of them become sensitive to the killer effect of their own bacteriocins--autocins (phenotype Au). Multiple change of the phenotype in E. herbicola occurs so spontaneously as under variable growing of bacteria at the optimal and supraoptimal growth temperature. It is also established that the cells of one of the strains stop synthesizing the additional carotenoid or synthesize the changed products. It is shown that carotenoid synthesis in the cells of E. herbicola g157/5k may be reduced by means of transduction of the Crt phenotype by lipid-containing bacteriophage UA1. Multiple change of the phenotype connected with the loss of yellow pigmentation by E. herbicola was referred to the phenomenon of the population dissociation which is similar to that in E. carotovora.

Bacteriocins↗
PubMed2005

Selection on mothers and offspring: whose phenotype is it and does it matter?

Reproductive and early life-history traits can be considered aspects of either offspring or maternal phenotype, and their evolution will therefore depend on selection operating through offspring and maternal components of fitness. Furthermore, selection at these levels may be antagonistic, with optimal offspring and maternal fitness occurring at different phenotypic values. We examined selection regimes on the correlated traits of birth weight, birth date, and litter size in Soay sheep (Ovis aries) using data from a long-term study of a free-living population on the archipelago of St. Kilda, Scotland. We tested the hypothesis that selective constraints on the evolution of the multivariate phenotype arise through antagonistic selection, either acting at offspring and maternal levels, or on correlated aspects of phenotype. All three traits were found to be under selection through variance in short-term and lifetime measures of fitness. Analysis of lifetime fitness revealed strong positive directional selection on birth weight and weaker selection for increased birth date at both levels. However, there was also evidence for stabilizing selection on these traits at the maternal level, with reduced fitness at high phenotypic values indicating lower phenotypic optima for mothers than for offspring. Additionally, antagonistic selection was found on litter size. From the offspring's point of view it is better to be born a singleton, whereas maternal fitness increases with average litter size. The decreased fitness of twins is caused by their reduced birth weight; therefore, this antagonistic selection likely results from trade-offs between litter size and birth weight that have different optimal resolutions with respect to offspring and maternal fitness. Our results highlight how selection regimes may vary depending on the assignment of reproductive and early life-history traits to either offspring or maternal phenotype.

Animals↗
PubMed2005

Evolution of the environmental component of the phenotypic variance: stabilizing selection in changing environments and the cost of homogeneity.

Quantitative traits show abundant genetic, environmental, and phenotypic variance, yet if they are subject to stabilizing selection for an optimal phenotype, both the genetic and environmental components are expected to decline. The mechanisms that determine the level and maintenance of phenotypic variance are not yet fully understood. While there has been extensive study of mechanisms maintaining genetic variability, it has generally been assumed that environmental variance is not dependent on the genotype and therefore not subject to change. However, accumulating data suggest that the environmental variance is under some degree of genetic control. In this study, it is assumed accordingly that both the genotypic value (i.e., mean phenotypic value) and the variance of phenotypic value given genotypic value depend on the genotype. Two models are investigated as potentially able to explain the protected maintenance of environmental variance of quantitative traits under stabilizing selection. One is varying environment among generations, such that both the optimal phenotype and the strength of the stabilizing selection vary between generations. The other is the cost of homogeneity, which is based on an assumption of an engineering cost of minimizing variability in development. It is shown that a small homogeneity cost is enough to maintain the observed levels of environmental variance, whereas a large amount of temporal variation in the optimal phenotype and the strength of selection would be necessary.

Analysis of Variance↗
PubMed2005

Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.

OBJECTIVES: Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder caused by mutations in the fibrillin-1 (FBN1) gene with variable clinical manifestations in the cardiovascular, musculoskeletal and ocular systems. METHODS: Data of moleculor genetic analysis and a catalogue of clinical manifestations including aortic elastic parameters were mined in order to (i) assess aortic abnormality before and during medical treatment, and to (ii) identify novel correlations between the genotype and phenotype of the disease using hierarchical cluster analysis and logistic regression analysis. A score measure describing the similarity between a patient's clinical symptoms and a characteristic phenotype class was introduced. RESULTS: A probabilistic model for monitoring the loss of aortic elasticity was built on merely aortic parameters of 34 patients with classic MFS and 43 control subjects showing a sensitivity of 82% and a specificity of 96%. The clinical phenotypes of 100 individuals with classical or suspected MFS were clustered yielding four different phenotypic expressions. The highest correlation was found between FBN1 missense mutations, which manifested as ectopia lentis, skeletal major and skin minor criteria, and two out of four clustered phenotypes. The probability of the presence of a missense mutation in both phenotype classes is approximately 70%. CONCLUSIONS: Monitoring of aortic elastic properties during medical treatment may serve as additional criterion to indicate elective surgical interventions. Genotype-phenotype correlation may contribute to anticipate the clinical consequences of specific FBN1 mutations more comprehensively and may be helpful to identify MFS patients at risk at on early stage of disease.

Adolescent↗
PubMed2006

HBsAg loading on dendritic cells in patients with chronic hepatitis B: expressions of phenotypic molecules.

BACKGROUND: The antigen reducing ability of dendritic cells (DCs), a kind of antigen presenting cells (APCs) initiating immune response, is associated with the specific immune tolerance of chronic hepatitis B (CHB) patients. However, the dysfunction of DCs can be possibly reversed by the stimulation of antigen peptides. In this study, DCs were cultured from peripheral blood monocytes (PBMCs) in patients with CHB in vitro, and the expression of phenotypic molecules on DCs loaded by different concentrations of HBsAg was observed. METHODS: Forty patients with CHB were divided randomly into 4 groups (10 patients in each group). PBMCs were isolated, and DCs were cultured after addition of granulocyte/macrophage colony-stimulating factor (GM-CSF) and interleukin 4 (IL-4). On the 9th day, DCs of the experimental groups were loaded at HBsAg concentrations of 2.5 mg/L, 5 mg/L and 10 mg/L for 24 hours, whereas those of the control group were not loaded. An electron microscope was used to analyze the morphological changes of the DCs. The expression of phenotypic molecules on DCs in different groups was detected with flow cytometry. RESULTS: A combination of GM-CSF and IL-4 produced DCs from PBMCs in patients with CHB after being cultured for 9 days, whose morphological changes were tested by an electron microscope. The expression of phenotypic molecules on DCs in the control group was as low as CD83 (8.02+/-3.99)%, CD80 (8.77+/-2.06)%, and MHC-DR (14.05+/-2.66)%. Loaded by different concentrations of HBsAg, the up-regulation of phenotypic molecules on DCs was found, with CD83 (18.35+/-2.93)%, CD80 (42.63+/-7.15)% and MHC-DR (47.49+/-6.59)% in 2.5 mg/L HBsAg loading group, CD83 (17.88+/-3.12)%, CD80 (45.24+/-10.93)% and MHC-DR (47.07+/-8.52)% in 5 mg/L HBsAg loading group and CD83 (16.74+/-2.86)%, CD80 (44.59+/-6.99)% and MHC-DR (48.59+/-7.42)% in 10 mg/L HBsAg loading group, respectively. Compared with the control group, the phenotypic molecules in the experimental groups were all different significantly (P<0.01), but among them, there were no differences (P>0.05). CONCLUSIONS: DCs cultured from PBMCs in the patients with CHB under the conditions of GM-CSF and IL-4 present on the typical dendritic morphology but are immature for expressing low phenotypic molecules. Loaded by different concentrations of HBsAg, the immature DCs can differentiate to mature DCs for expressing increasing phenotypic molecules.

Adolescent↗
PubMed2006

[Molecular basis of Rh DEL phenotype in Zhejiang Han population].

This study was purposed to investigate the molecular basis of Rh DEL phenotype. Rh DEL phenotypes were identified by a serologic adsorption-elution method, the nucleotide sequences of ten RHD exons and exon-intron boundary regions were evaluated by a RHD gene-specific PCR-SSP (PCR-SSP, polymerase chain reaction-sequence specific primer) and sequencing. The results showed that out of 122 random Rh negative donors 35 Rh DEL phenotypes were identified through serologic method, including 6 RhCCdee (17.14%), 28 RhCcdee (80.00%), and 1RhCcdEe (2.86%). Sequence analysis indicated that all DEL phenotypes harbored a RHD 1227 G > A mutation in exon 9. D zygosity test revealed that 29 DEL phenotypes (28 RhCcdee and 1 RhCcdEe) had one RHD gene deleted, and 6 DEL phenotypes (6 RhCCdee) had homogenous RHD gene. It is concluded that RHD 1227A is an important genetic marker for Rh DEL phenotype in Zhejiang Han population.

Alleles↗
PubMed1977

[Alpha-1-antitrypsin deficiency. Phenotype study of 60 members of the same family].

In two brothers treated for severe pulmonary emphysema, was demonstrated an alpha-1-antitrypsin deficiency associated with a ZZ phenotype (Pi system). The authors carried out a genetic study of the family including 60 members spread over 4 generations. In all, were demonstrated 4 subjects of phenotype ZZ, 29 of phenotype MZ, 3 of phenotype MS ; one subject had a phenotype SZ and 23 members of this family had normal levels of alpha-1-antitrypsin and were of phenotype MM. The disease was transmitted in all cases as an autosomic codominant. The interest of a study of the phenotype in alpha-1-antitrypsin deficiency is emphasized together with the practical steps to be taken on discovery of a subject with the allele responsible for a reduction in serum levels of alpha-1-antitrypsin.

Adult↗