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PubMedDate not supplied

Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis.

Twenty-seven families and four individual patients with hereditary spherocytosis (HS) from the northwestern region of Mexico were studied. An autosomal dominant inheritance pattern was identified in 59% of 22 families. Densitometric analysis of erythrocyte membrane proteins revealed individual protein deficiencies in 39% of the patients studied, in whom the principal altered proteins were the alpha spectrins (13%), band 3 protein (10%), ankyrin (6%), 4.2 protein (6%), and the beta spectrins (3%). A predominant deficiency of spectrins has also been observed in other Latin American and Mediterranean countries. However, it is well known that deficiencies in these proteins are heterogeneous across different ethnic groups. A combined protein deficiency was observed in 52% of patients, most frequently involving the spectrins, band 3 protein, 4.2 protein, and 4.1 protein. In three subjects, no abnormalities were detected (10%). We conclude that, despite the observed heterogeneity, the principal affected proteins are essentially similar to those observed in other ethnic groups.

Adolescent↗
PubMed1999

Genetics of allergy and asthma.

LEARNING OBJECTIVES: This article summarizes the latest information regarding the role of genetic influences in the development of allergic disorders and asthma and reviews our current information on some of the most likely genes responsible for these conditions. After reading this article, the reader will have a better understanding of the current molecular biologic techniques that are being used to understand complex genetic disorders such as allergies and asthma. The reader should understand the value of how this genetic insight will lead to the recognition of the presence of specific subtypes of these disorders that require unique therapeutic interventions. This information can also be used to identify genetically at risk children and thereby offer earlier intervention. Finally, understanding the genetic causes of allergies and asthma will lead to the development of the next--hopefully curative--generation of asthma and allergy therapeutics. DATA SOURCES: A detailed literature search was conducted. Studies considered relevant, well performed, and appropriately controlled were used. Only human studies are included and only the English language literature was reviewed. Some of the information presented is based on the author's own research experience. STUDY SELECTION: Material was only taken from peer-reviewed journals and appropriate reviews. RESULTS AND CONCLUSIONS: Asthma and allergic diseases are examples of disorders having an unmistakable genetic predisposition, but in the absence of a classic Mendelian inheritance pattern. These "complex" genetic disorders are caused by the interactions of multiple interacting genes some having protective value and some contributing to disease development and with each gene having its own variable tendency to be expressed. In addition, these disorders require the presence of appropriate environmental triggers for their expression. One approach to identifying the genetic basis for these conditions is to perform a genome-wide search in which the location of the disease-causing gene on a human chromosome is identified and nearby genes that may be responsible are subsequently identified. An alternative approach to identifying heritable components to asthma and allergy is to evaluate disordered structure or regulation within genes known to be involved in these disorders. Using these approaches, studies have suggested that genes within the cytokine gene cluster on chromosome 5 (including interleukins-3, -4, -5, -9, and -13), chromosome 11 (the beta chain of the high affinity IgE receptor), chromosome 16 (the IL-4 receptor), and chromosome 12 (stem cell factor, interferon-gamma, insulin growth factor, and Stat 6 [IL-4 Stat]) may contribute to asthma and allergy development. In addition, data support involvement of genes involved in antigen-presentation (MHC class II genes) and T cell responses (the T cell receptor alpha chain). Finally, disease-contributing alleles may be present on genes for the beta-adrenergic receptor, 5-lipoxygenase, and leukotriene C4 synthase.

Antigen Presentation↗
PubMed2000

Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti.

IKK gamma/NEMO is the essential regulatory subunit of the I kappa B kinase (IKK), encoded by an X-linked gene in mice and humans. It is required for NF-kappa B activation and resistance to TNF-induced apoptosis. Female mice heterozygous for Ikk gamma/Nemo deficiency develop a unique dermatopathy characterized by keratinocyte hyperproliferation, skin inflammation, hyperkeratosis, and increased apoptosis. Although Ikk gamma+/- females eventually recover, Ikk gamma- males die in utero. These symptoms and inheritance pattern are very similar to those of incontinentia pigmenti (IP), a human genodermatosis, synthenic with the IKK gamma/NEMO locus. Indeed, biopsies and cells from IP patients exhibit defective IKK gamma/NEMO expression but normal expression of IKK catalytic subunits. This unique self-limiting disease, the first to be genetically linked to the IKK signaling pathway, is dependent on X-chromosome inactivation. We propose that the IKK gamma/NEMO-deficient cells trigger an inflammatory reaction that eventually leads to their death.

Animals↗
PubMed1995

Lutheran antigens, CD44-related antigens, and Lutheran regulatory genes.

The Lutheran (Lu) blood group antigens are a family of human erythrocyte antigens which reside on two closely-related erythrocyte integral membrane proteins. Sixteen Lutheran or so-called para-Lutheran antigens have thus far been described, and human antisera to many of them have been shown to immunoblot two proteins, of 78 and 85 kDa. Lu cDNA encodes an integral membrane protein of 597 amino acids that is a member of the Ig superfamily. Lu proteins comprise five Ig superfamily domains, along with a single transmembrane domain and a cytoplasmic domain of about 60 amino acids. The two proteins seen in biochemical studies of red cell membranes appear to be derived from 2 mRNA species that differ only in their 3' ends, suggesting that they arise from alternate splicing of a single preRNA. Three genetic backgrounds for the Lu(a-b-) [Lu null] phenotype have been described. A recessive Lu null phenotype is rarely observed as a result of homozygosity for two amorphic LU alleles. However, the most common Lu(a-b-) phenotype appears to be caused by an independently segregating, dominant gene, designated In (Lu), which inhibits expression of all Lutheran antigens to nearly undetectable levels. This gene also affects the expression of other cell surface proteins and blood group antigens that are genetically unlinked to the Lutheran locus, including CD44 and MER2. CD44, a member of the cartilage link family of proteins, bears the In and AnWj blood group antigens. A widely distributed protein CD44 is expressed at normal levels on all tissues except erythrocytes in the presence of the In (Lu) gene. A second Lutheran regulatory gene, XS2, is responsible for the third Lu(a-b-) phenotype, which exhibits an X-linked inheritance pattern. The XS2 gene down-regulates but does not abolish expression of LU genes and does not affect expression of CD44.

DNA, Complementary↗
PubMed1998

Multimedia system based on programmed instruction in medical genetics: construction and evaluation.

A multimedia system used as an auxiliary didactic tool for teaching medical genetics, HGEN, is based on non-linear programmed instruction and multimedia. HGEN was implemented in layers for PC compatible using MULTIMEDIA TOOLBOOK and DELPHI. It includes basic medical genetics concepts (inheritance patterns and cytogenetics) and it is based on multiple choice questions with images, diagrams and animations. The student-program interaction occurs by choosing an alternative in a question and receiving a specific answer as feedback and additional information. Links send the students to a glossary, to short descriptions of diseases used as examples, or to references for further studies. In order to evaluate the performance of the HGEN the authors used two questionnaires: (a) about the students' background in using computers; and (b) the system efficiency as a didactic tool, the software quality and user satisfaction. HGEN was used by 63 students from three medical schools and it was considered efficient as a learning tool (100%). Furthermore the implementation of a navigation map for frequencies analysis of followed path enable the study to detect structure and content inadequacies that could be correct for version 1.1 and proved to be an efficient tool to optimize a didactic software.

Computer-Assisted Instruction↗
PubMed2004

Isolated gastroschisis in successive siblings: a case report and review of the literature.

BACKGROUND: Although gastroschisis occurring in siblings is rare, a number of cases have been reported. A variety of inheritance patterns and embryologic explanations have previously been suggested. Young maternal age appears to be a consistent risk factor. CASE: At age 17 years, Melanie (pseudonym) presented at 36 weeks' gestation and delivered a boy affected by gastroschisis. This condition had not been noted at a 13-week prenatal ultrasound. At age 18 years, Melanie delivered a second son with gastroschisis. There was no history of gastroschisis or other congenital anomaly in either parent's family. Melanie denied the use of alcohol, cigarettes, street drugs, and medications. She has since delivered 2 healthy children. CONCLUSION: There is a need for preconception counselling for women who have experienced a pregnancy complicated by gastroschisis, to discuss the low but possible risk of recurrence. Early ultrasound may allow for detection or reassurance.

Adolescent↗
PubMed1978

Delineation of syndromes due to partial 6q imbalances. Trisomy 6q21 leads to qter and monosomy 6q221 leads to qter in two unrelated patients.

Two unrelated patients carrying imbalances involving the long arm of chromosome 6 are described. In the first trisomy 6q21 leads to qter had segregated from a maternal translocation t(6;16)(q15;q24). The clinical data of the proposita are compared with those of three other published cases. A partial 6q trisomy syndrome is postulated characterized by: growth deficiency of prenatal onset, psychomotor retardation, craniofacial abnormalities (microcephalia, hypertelorism, downward slanting palpebral fissures, flattened nasal bridge, long philtrum, hypoplastic perioral features, large jaw resulting in a round appearance of the face, receding chin, malformed ears) and dysmorphic extremities (contractures of limbs due to short flexor tendons, hypoplastic fingers, toes and nails). In the second case, monosomy 6q221 leads to qter resulted from a de novo rearrangement and was responsible for mental retardation and facial dysmorphism (reduced biparietal diameter, hypotelorism, absent eyebrows, prominent nose, ptosis, receding chin, dysmorphic ears). Studies of HLA and PGM3 segregation showed normal inheritance patterns and ruled out the location of these genes in bands 6q221 leads to qter.

Abnormalities, Multiple↗
PubMed1989

Non-additive inheritance of glucose phosphate isomerase activity in mice heterozygous at the Gpi-1s structural locus.

The activity of blood glucose phosphate isomerase (GPI-1) in mice heterozygous for various alleles at the Gpi-1s structural locus (heterozygotes a/b, a/c and b/c) was significantly higher than expected, on the basis of additive inheritance, from the levels in parental homozygotes. Moreover, the GPI-1 activity was higher in a/b heterozygotes than in either parent (heterosis). Studies of heat stability with kidney homogenates revealed that the relative stabilities of GPI-1 dimers was AA greater than AB greater than BB greater than AC greater than or equal to BC greater than CC. Differences in dimer stabilities in vivo would affect the total GPI-1 levels in heterozygotes and could account for non-additive inheritance but would be insufficient to explain heterosis for GPI-1 activity. Other possible contributing factors include unequal production or stability of monomers, or higher catalytic activity of heterodimers. Monomers could also associate non-randomly but this would not be sufficient to explain heterosis. It is clear that non-additive inheritance patterns may be produced by variants of either structural or regulatory genes.

Animals↗
PubMed1991

Familial multicentric paragangliomas in a child.

A 12-year-old girl presented with bilateral carotid-body paragangliomas and a unilateral jugular paraganglioma. The tumours were surgically removed. This is a rare combination of tumours in any patient and previously unreported in a child of this age. Her father died of a cerebellar astrocytoma and her mother underwent surgical removal of a large mediastinal paraganglioma. The association of astrocytoma with familial paragangliomas has never been documented. The literature on the epidemiology and inheritance pattern of familial paragangliomas is reviewed. The need for thorough pre-operative evaluation of the patient and close follow-up of family members is stressed.

Carotid Body Tumor↗
PubMed1996

The occurrence of multiple sclerosis in the Hutterites of North America.

OBJECTIVE: To report the occurrence, clinical characteristics and genealogical analysis of multiple sclerosis in the Hutterites of North-Western United States and Western Canada. BACKGROUND: The incidence of multiple sclerosis is reported to be lower or rare in certain ethnic groups and genetic isolates and was previously observed to be absent in the Hutterite population. METHODS: After long-term surveillance, six patients were identified and clinical examinations and laboratory investigations including VER and MRI were completed. RESULTS: The six cases included two brothers, two first cousins, male and female, another male and female, all representing two of the three endogamous groups of Hutterites, are linked to two common ancestors through lines of descent dating to 1723. The individual pedigrees were analyzed from extensive genealogical records covering eight generations. CONCLUSION: The incidence of multiple sclerosis in Hutterites is low in a high risk area of North America. A specific mode of inheritance pattern has not been established and a common founder effect may play a role in the development of multiple sclerosis. The genetic contribution of the Hutterites seems greater than previously recognized.

Adult↗
PubMed1997

Variable (CA/GT)n simple sequence repeat DNA in the alga Chlamydomonas.

A partial genomic DNA library of Chlamydomonas reinhardtii was screened with an (AC)11 probe for the presence of (CA/GT)n simple sequence repeats (SSRs). Based on the frequency of these repeats in the partial genomic library, we estimate that (CA/GT)n repeats occur at a rate of about one every 17.7 kb in the C. reinhardtii genome. Ten positive clones were sequenced and four polymerase chain reaction (PCR) primer sets flanking (CA/GT)n sequences were constructed for four loci. The PCR was used to specifically amplify these regions from multiple isolates of C. reinhardtii. All four loci were highly polymorphic in the C. reinhardtii isolates. A simple Mendelian inheritance pattern was found for all four loci, which showed 2:2 segregation in the tetrads resulting from a cross between C. reinhardtii and C. smithii. Our results suggest that these simple sequence repeat DNA loci will be useful for identity testing, population studies, linkage analysis, and genome mapping in Chlamydomonas.

Animals↗
PubMed1998

Hereditary persistence of alpha-fetoprotein. Case report and review of the literature.

Persistently elevated alpha-fetoprotein (AFP) levels of 24 to 30 micrograms/ml (normal < 10 micrograms/ml) were found in a 38-year-old healthy man. Subsequently, AFP was found to be elevated in another five out of 13 family members within three generations. The pedigree is consistent with an autosomal dominant inheritance pattern. No discernible disease and no functional abnormality appears to be associated with this clinically benign disorder which has been recorded in the literature on four occasions to date. The reported AFP levels in these other cases ranged from 18 to 198 micrograms/ml. Physiologically, AFP is mainly produced in the liver and the yolk sac of human fetuses more than four weeks old, with peak values of up to 4 mg/ml at 12 to 16 weeks of gestation. After birth, AFP levels usually fall, within eight to 12 months, to a very low concentration of < 10 micrograms/ml and persist at low levels throughout life. However, AFP levels can rise above normal in both children and adults in distinct conditions and diseases which will be discussed. Hereditary persistence of alpha-fetoprotein (HPAFP) should be considered in both children and adults with unexplained and persistent elevation of AFP e.g., those screened for hepatocellular carcinoma or diagnosed for germ cell tumor. It should also be recognized in AFP screening for neural tube defects or Down's syndrome during pregnancy. Hereditary persistence of AFP can be easily confirmed by analyzing AFP levels in family members.

Adult↗
PubMed2001

Genetic diversity among different clones of the gynogenetic silver crucian carp, Carassius auratus gibelio, revealed by transferrin and isozyme markers.

Genetic diversity among four clones (A, D, E, F) of gynogenetic silver crucian carp was studied using transferrin and isozymes in the blood as markers. Of the five proteins investigated, three (transferrin, esterase and superoxide dismutase) indicated polymorphism and eight polymorphic loci were detected. These loci were probably encoded by codominant alleles and their inheritance patterns were analyzed. Intraclonal homogeneity and interclonal heterogeneity were observed in these clones, which allowed us to infer the clonal nature and evolutionary relationship between them. Clonal diversity in this population of silver crucian carp in China was also compared with data reported from gynogenetic crucian carp in Germany.

Alleles↗
PubMed2001

Choice of methodology for assessing genetic impacts of environmental stressors: polymorphism and reproducibility of RAPD and AFLP fingerprints.

PCR-based multi-locus DNA fingerprints represent one of the most informative and cost-effective measures of genetic diversity and are useful population-level biomarkers of toxicologic and other anthropogenic impacts. However, concerns about reproducibility of DNA fingerprints have limited their wider use in environmental biology. We assessed polymorphism and reproducibility of two common fingerprinting techniques, RAPD (randomly amplified polymorphic DNA) and AFLP (amplified fragment length polymorphism), in pedigreed populations of rainbow trout (Oncorhynchus mykiss) to derive general rules for selective removal of problematic fingerprint bands. We found that by excluding bands that comprised less than 1% of total intensity, and by excluding the largest and smallest 10% of the bands, we could achieve nearly 100% reproducibility of AFLP fingerprints. Similar application of band exclusion criteria to RAPD fingerprints did not significantly enhance their reproducibility, and at least 15% of RAPD bands were not fully repeatable, heritable, or transmittable. The RAPD technique produced more polymorphic fingerprints than AFLP; however, considering that a substantial proportion of RAPD markers did not demonstrate Mendelian inheritance patterns, the AFLP methodology is to be preferred for future research.

Animals↗
PubMed1999

Diversity in expression of glucose-6-phosphate dehydrogenase deficiency in females.

The aims of this study were to determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the United Arab Emirates (UAE), to describe the different mutations in the population, to determine its prevalence, and to study inheritance patterns in families of G6PD-deficient individuals. All infants born at Tawam Hospital, Al-Ain, UAE from January 1994 to September 1996 were screened at birth for their G6PD status. In addition, those attending well-baby clinics during the period were also screened for the disorder. Families of 40 known G6PD-deficient individuals, selected randomly from the records of three hospitals in the country, were assessed for G6PD deficiency. Where appropriate, this was followed by definition of G6PD mutations. Of 8198 infants, 746 (9.1%), comprising 15% of males and 5% of females tested, were found to be G6PD deficient. A total of 27 families were further assessed: of these, all but one family had the nt563 Mediterranean mutation. In one family, two individuals had the nt202 African mutation. The high manifestation of G6PD deficiency in women may be due to the preferential expression of the G6PD-deficient gene and X-inactivation of the normal gene, and/or to the presence of an 'enhancer' gene that makes the expression of the G6PD deficiency more likely. The high level of consanguinity which, theoretically, should result in a high proportion of homozygotes and consequently a higher proportion of females with the deficiency, was not found to be a significant factor.

Consanguinity↗
PubMed2002

Endosperm-specific expression of green fluorescent protein driven by the hordein promoter is stably inherited in transgenic barley (Hordeum vulgare) plants.

The expression of green fluorescent protein (GFP) and its inheritance were studied in transgenic barley (Hordeum vulgare L.) plants transformed with a synthetic green fluorescent protein gene [sgfp(S65T)] driven by either a rice actin promoter or a barley endosperm-specific d-hordein promoter. The gene encoding phosphinothricin acetyltransferase (bar), driven by the maize ubiquitin promoter and intron, was used as a selectable marker to identify transgenic tissues. Strong GFP expression driven by the rice actin promoter was observed in callus cells and in a variety of tissues of T0 plants transformed with the sgfp(S65T)-containing construct. GFP expression, driven by the rice actin promoter, was observed in 14 out of 17 independent regenerable transgenic callus lines; however, expression was gradually lost in T0 and later generation progeny of diploid lines. Stable GFP expression was observed in T2 progeny from only 6 out of the 14 (43%) independent GFP-expressing callus lines. Four of the 8 lines not expressing GFP in T2 progeny, lost GFP expression during T0 plant regeneration from calli; one lost GFP expression in the transition from the T0 to T1 generations and three lines were sterile. Similarly, expression of bar driven by the maize ubiquitin promoter was lost in T1 progeny; only 21 out of 26 (81%) independent lines were Basta-resistant. In contrast to actin-driven expression, GFP expression driven by the d-hordein promoter exhibited endosperm-specificity. All seven lines transformed with d-hordein-driven GFP (100%) expressed GFP in the T1 and T2 generations, regardless of ploidy levels, and expression segregated in a Mendelian fashion. We conclude that the sgfp(S65T) gene was successfully transformed into barley and that GFP expression driven by the d-hordein promoter was more stable in its inheritance pattern in T1 and T2 progeny than that driven by the rice actin promoter or the bar gene driven by the maize ubiquitin promoter.

Journal Article↗
PubMed2005

The effect of familial sinistrality and academic experience on cognition in right-handed women.

Research in sex, brain lateralization, and cognition suggests that right-handed women vary in cognitive ability according to handedness inheritance patterns. Right-handed college women with positive familial sinistrality (FS+; i.e., the presence of at least one left-handed biological relative; n=30) were compared with right-handed women with negative familial sinistrality (FS-; n=30) by means of visuospatial (the Rey-Osterrieth Complex Figure Test and the Wechsler Adult Intelligence Scale--Revised Block Design subtest), verbal (the California Verbal Learning Test and Animal Naming), and motor performance tests (Finger Tapping and Grooved Pegboard). FS+ women outperformed FS- women on spatial tasks and used more efficient spatial strategies. The FS- group showed no corresponding verbal advantage. Spatial differences were not accounted for by motor skill, intellectual ability, or academic major.

Adolescent↗
PubMed1998

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Febrile seizures affect approximately 3% of all children under six years of age and are by far the most common seizure disorder. A small proportion of children with febrile seizures later develop ongoing epilepsy with afebrile seizures. Segregation analysis suggests the majority of cases have complex inheritance but rare families show apparent autosomal dominant inheritance. Two putative loci have been mapped (FEB1 and FEB2), but specific genes have not yet been identified. We recently described a clinical subset, termed generalized epilepsy with febrile seizures plus (GEFS+), in which many family members have seizures with fever that may persist beyond six years of age or be associated with afebrile generalized seizures. We now report linkage, in another large GEFS+ family, to chromosome region 19q13.1 and identification of a mutation in the voltage-gated sodium (Na+)-channel beta1 subunit gene (SCN1B). The mutation changes a conserved cysteine residue disrupting a putative disulfide bridge which normally maintains an extracellular immunoglobulin-like fold. Co-expression of the mutant beta1 subunit with a brain Na+-channel alpha subunit in Xenopus laevis oocytes demonstrates that the mutation interferes with the ability of the subunit to modulate channel-gating kinetics consistent with a loss-of-function allele. This observation develops the theme that idiopathic epilepsies are a family of channelopathies and raises the possibility of involvement of other Na+-channel subunit genes in febrile seizures and generalized epilepsies with complex inheritance patterns.

Amino Acid Sequence↗