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PubMed2006

Genetic analysis of SCA2, 3 and 17 in idiopathic Parkinson's disease.

Recent reports of SCA2 and SCA3 patients who presented with levodopa responsive parkinsonism have generated considerable interest as they have implications for genetic testing. It is unclear whether ethnic race alone or founder effects within certain geographical region explain such an association. In this study, we conducted genetic analysis of SCA2, 3, 17 in an ethnic Chinese cohort with early onset and familial Parkinson's disease (PD) and healthy controls. A total of 191 subjects comprising of 91 PD and 100 healthy controls were examined. We identified one positive case of SCA2 in an early-onset sporadic PD patient who had CAG 36 repeats, yielding a prevalence of 2.2% in early-onset sporadic PD patients and less than 1.0% in our study PD population. The size of the repeats was lower than the expanded repeats (38-57) in SCA2 patients with ataxia in our population. All the children of the patient were physically normal even though some of them carried the repeat expansion of similar size. No cases and controls were positive for SCA3 and SCA17. We do not think routine screening of SCA2, SCA3 and SCA17 for all idiopathic PD patients is cost-effective in our ethnic Chinese population. However, SCA2 should be a differential diagnosis in young onset sporadic PD when genetic mutations of other known PD genes have been excluded.

Adult↗

PubMed1998

[Clinical features and genetic analysis in a family with X-linked incomplete congenital stationary night blindness (CSNBi)].

PURPOSE: We describe particular clinical features in a three-generation family with X-linked CSNBi and present the genetic analysis. METHOD: The diagnosis of CSNBi was established on clinical and electrophysiological criteria. Polymorphic DNA markers of the Xp region were analyzed by fluorescent polymerase chain reaction. RESULTS: Clinical findings evidenced an atypical association of both myopia and hyperopia in the same brotherhood. The most interesting feature in this family was the observation of major worsening of the clinical shape between the first and the third generation of affected individuals. DNA analysis did not show significant linkage between the disease and markers of the Xp11-p21 region. Southern analysis did not show expansion of trinucleotide repeat CAG/CTG and CCG/CGG over the three generation. CONCLUSION: Haplotypic analysis together with clinical observations allow to exclude the existence of a myopia gene closely linked to the CSNB2 locus. The clinical anticipation observed in this family does not seem to be linked with trinucleotide repeat expansion CAG/CTG or CCG/CGG.

Adolescent↗

PubMed2005

Genetic analysis of adiponectin and obesity in Hispanic families: the IRAS Family Study.

Adiponectin, coded for by the APM1 gene, is a novel adipocyte-derived hormone implicated in energy homeostasis and obesity. Several genetic studies have observed evidence of association between APM1 gene polymorphisms and features of the metabolic syndrome, such as insulin resistance and obesity. As part of a comprehensive genetic analysis of the APM1 gene, we have screened 96 unrelated individuals for polymorphisms in the promoter, coding regions, and 3'untranslated region (UTR). Three promoter single-nucleotide polymorphisms (SNPs), two rare coding SNPs (G113A and T1233C), and 13 SNPs in the 3'UTR were identified. Eighteen SNPs were genotyped in 811 Hispanic individuals from 45 families in the IRAS Family Study (IRASFS). SNPs were tested for association with six obesity quantitative traits (body mass index, waist, waist:hip ratio, subcutaneous adipose tissue, visceral adipose tissue, and visceral:subcutaneous ratio). Significant evidence of association to at least one of the obesity traits was identified in seven of the 18 SNPs (<0.001-0.05). The promoter SNP INS CA-11156 was the most consistently associated SNP and was associated significantly with all measures of obesity, except the visceral:subcutaneous ratio (P-values 0.009-0.03). Haplotype analysis supported this evidence of association, with haplotypes containing an insertion of one CA repeat at position -11156 consistently being associated with lower obesity values (P-value <0.001-0.05). The adiponectin polymorphisms, in particular those in the promoter region, thus show significant association with obesity measures in the Hispanic population. Additional studies are needed to confirm our findings and determine which polymorphism causes the functional effect.

3' Untranslated Regions↗

PubMed1984

Genetic analysis of familial erythrophagocytic lymphohistiocytosis.

A family with two patients suffering from familial erythrophagocytic lymphohistiocytosis (FEL) is described. Reports on FEL found in the literature were collected and the family trees reconstructed. Genetic analysis of this material indicated that FEL is an autosomal recessive hereditary disease. This conclusion is supported by the following evidence: considerably increased consanguinity rate; complete concordance in monozygotic twins; more frequent occurrence in inbred populations and in cousins; limitation of cases to one generation, and results of segregation analysis.

Consanguinity↗

PubMed1991

Genetic analysis of the cellularization of the Drosophila embryo.

The synchronous cellularization of the Drosophila embryo at the blastoderm stage provides a unique system for studying the molecular mechanisms involved in cytokinesis, using genetical and biochemical approaches. The cellularization process requires the major components of the embryonic cytoskeleton that are deposited into the egg during oogenesis. Genetical analysis indicates that it requires also the products of additional maternally-acting genes, as well as that of a limited set of zygotically-acting genes. The cellularization defective phenotypes associated with small deficiencies uncovering these latter loci reveal specific steps within this complex process. The molecular analysis of these genes will ultimately provide meaningful insights into the normal process of cellularization. Among them, the serendipity alpha gene encodes a membrane-associated protein, which is exclusively accumulated during cellularization, and is required for the reorganization of the microfilaments as the onset of cellularization.

Actins↗

PubMed1995

Establishment of the hereditary cataract rat strain (SCR) and genetic analysis.

The Shumiya cataract rat (SCR) and normal control rat strains of NC1 and NC2 were established. Mean cataract appearance in adult SCR rats was 66.7%, and embryo death rate was 25%. Genetic analysis of cataract formation in the SCR was studied by breeding experiments with strains such as NC1, BUF, ACI, AD3, and normal SCR rats. No sex-based differences in cataract appearance were observed in any of the progeny. These results confirmed our hypotheses that two autosomal genes, a recessive cataract gene (ctr1), and a normal allele of a dominant cataract gene with a recessive lethal trait (Ctr2(1)) for provisional designations participated in cataract genesis in SCR (ctr1/ctr1, Ctr2(1)/Ctr2) rats. One recessive cataract gene was maintained in normal SCR, NC1 and NC2 (ctr1/ctr1, Ctr2/Ctr2) rats. The same recessive cataract gene was retained in the albumin-deficient brown hooded rat strain AD3 (ctr1/ctr1, Ctr2/Ctr2).

Animals↗

PubMed2005

Population genetic analysis and sub-structuring of Theileria parva in Uganda.

In recent years the population structures of many apicomplexan parasites including Plasmodium spp., Toxoplasma gondii and Cryptospordium parvum have been elucidated. These species show a considerable diversity of population structure suggesting different strategies for transmission and survival in mammalian hosts. We have undertaken a population genetic analysis of another apicomplexan species (Theileria parva) to investigate the levels of diversity of this parasite and the role of genetic exchange in three geographically separate populations. The principal hindrance to carrying out such a study on field isolates was the high proportion of blood samples that contain multiple genotypes, making it impossible to determine the genotypes of the parasites directly. This problem was overcome by sampling only young indigenous calves between 3 and 9 months of age in which approximately 60% of the T. parva infected calves contained a single/predominant allele at each locus, making it possible to undertake population genetic analyses. Blood samples were collected from calves in three geographically distinct regions of Uganda and were analysed using 12 polymorphic mini and microsatellite markers that were evenly dispersed across the four chromosomes. We have identified 84 multilocus genotypes (MLG) from these samples, indicating high levels of diversity in the parasite. Analysis of linkage disequilibrium between pairs of loci provides evidence that the population in Lira district had an epidemic structure. The population in Mbarara was substructured containing two genetically distinct sub-groups and the larger sub-group also had an epidemic population structure. The population from Kayunga was in linkage disequilibrium. Genetic distances and Wrights fixation index (F(ST)) indicate that there is evidence for geographical sub-structuring between the Lira and the Kayunga populations.

Alleles↗

PubMed1983

Intertribal gene flow between the Ye'cuana and Yanomama: genetic analysis of an admixed village.

Genetic exchange with a neighboring village of Ye'cuana Indians had introduced two alleles, Dia and ACPa, into the Yanomama Indian Village of Borabuk. After several generations, these alleles had reached frequencies of 0.08 and 0.10, respectively. These frequencies are puzzling because they are higher in Borabuk than in the Ye'cuana village from which they were derived. Single allele estimates of ancestral proportions obtained from either of these traits are biologically unrealistic and suggest that admixture is not a good explanation for genetic variation in Borabuk. Nevertheless, multiallelic admixture models are seen to produce credible estimates of ancestral proportions and to explain a large amount of allele frequency variation in Borabuk. When these results are compared with expectations derived froma formal pedigree analysis, good agreement is seen. Comparison of single allele estimates of ancestral proportions obtained from alleles at 11 loci, with multiallelic estimates obtained from the same 11 loci and with the pedigree-derived estimates, demonstrates the superiority of the multiallelic approach.

Alleles↗

PubMed2004

[Genetic analysis of gonadotropin-gonadal axis in boys: a twin study].

OBJECTIVE: To analyse the heritabilities of serum luteinizing hormone(LH), follicle-stimulating hormone (FSH), testosterone (T) and estradiol (E2) in twin boys, and to study the genetic contributions to gonadotropin-gonadal axis. METHODS: A total of 51 pairs of male twins, 35 monozygotic (MZ) and 16 dizygotic(DZ) aged 5 to 11 years, were investigated. Serum gonadotropin and sex hormone were measured by radioimmunoassay. The twin zygosity was verified by determination of short tandem repeat amplified fragment length polymorphism systems. The genetic analysis was performed using intraclass correlation coefficient method. RESULTS: The intraclass correlation coefficient was greater in the MZ twins than in the DZ twins. The estimated heritabilities were respectively LH 0.51, FSH 0.32, T 0.81, E2 0.41. CONCLUSION: Genetic factors are major determinants of gonadotropin-gonadal axis in boys.

Child↗

PubMed1976

Genetic analysis of mitochondrial biogenesis and function in Saccharomyces cerevisiae.

Different mitochondrial mutants have been isolated that affect mitochondrial ribosome function. These mutants were used to establish most of the known methods and principles of mitochondrial genetics in yeast. Another class of mitochondrial mutants have been shown to affect mitochondrial ATPase and, more specifically, the "membrane factor" of mitochondrial ATPase. These mutants might be very useful in studying the energy-conserving function, and the interaction between the hydrophobic and hydrophylic parts, of the ATPase complex. New types of mitochondrial point mutations, concerning cytochrome a-a3 or b, will soon open up new fields of investigation. The biochemical and genetic analysis of numerous mutants belonging to that category and recently obtained [31] is being currently pursued in Tzagoloff's and Slonimski's laboratories.

Adenosine Triphosphatases↗

PubMed1986

Genetic analysis of blood pressure and sodium balance in spontaneously hypertensive rats.

Blood pressure and parameters of sodium balance were measured during the first 16 weeks of life in male Okamoto spontaneously hypertensive rats (SHR, n = 22), Wistar-Kyoto rats (WKY, n = 25), and the F1 (n = 27) and F2 (n = 81) hybrids of the SHR and WKY. Genetic analysis revealed that blood pressure in SHR was controlled by approximately four independent genetic loci and the degree of genetic determination was 64.5%. No difference in blood pressure was discernible before 12 weeks of age between those F2 rats that at 16 weeks had blood pressures either higher or lower than one standard deviation from the mean. Exchangeable sodium was measured sequentially in individual rats of all populations by determining their whole-body radioactivity while receiving 37.5 mM 22Na/23NaCl drinking fluid of constant specific activity as their sole source of sodium. The SHR had consistently higher exchangeable sodium levels than WKY and showed evidence of relative sodium retention during the early developmental phase of hypertension. Sodium intake was higher in SHR than WKY from 4 to 16 weeks of age, although saline preference was the same in both strains. None of these parameters of sodium balance were found to correlate with blood pressure in the F2 population. It is concluded that the heritable abnormalities of sodium balance in SHR appear to represent coincidental inbred characteristics controlled by genetic loci that are unrelated to those loci responsible for the expression of hypertension in this model.

Animals↗

PubMed1999

Plasmodium falciparum: population genetic analysis by multilocus enzyme electrophoresis and other molecular markers.

Abderrazak, S. B., Oury, B, Lal, A. A., Bosseno, M.-F., Force-Barge, P., Dujardin, J.-P., Fandeur, T., Molez, J.-F., Kjellberg, F., Ayala, F. J., and Tibayrenc, M. 1999. Plasmodium falciparum: Population genetic analysis by multilocus enzyme electrophoresis and other molecular markers. Experimental Parasitology 92, 232-238. The population structure of Plasmodium falciparum, the agent of malignant malaria, is uncertain. We have analyzed multilocus enzyme electrophoresis (MLEE) polymorphisms at 7-12 gene loci in each of four populations (two populations in Burkina Faso, one in Sudan, one in Congo), plus one "cosmopolitan" sample consisting of parasite cultures from 15 distant localities in four different continents. We have also performed random amplified polymorphic DNA analysis (RAPD) and restriction fragment length polymorphism (RFLP) and characterized gene varia tion at four antigen genes in the Congo population. All genetic assays show abundant genetic variability in all populations analyzed. With the isoenzyme assays, strong linkage disequilibrium is apparent in at least two local populations, the Congo population and one population from Burkina Faso, as well as in the cosmopolitan sample, and less definitely in the other Burkina Faso population. However, no linkage disequilibrium is detected in the Congo population with the molecular assays. We failed to detect any nonrandom association between the different kinds of genetic markers; that is, MLEE with RAPD or RFLP, RAPD with RFLP, and so on. Although isoenzyme data show statistical departures from panmictic expectations, these results suggest that in the areas under survey, P. falciparum populations do not undergo predominant clonal evolution and show no clear-cut subdivisions, un like Trypanosoma cruzi, Leishmania sp., and other major parasitic species. We discuss the epidemiological and taxonomical significance of these results.

Animals↗

PubMed1990

Genetic variation for oviposition behavior in Drosophila melanogaster. I. Quantitative genetic analysis of insertion behavior.

The genetic basis of egg insertion behavior was analyzed in two Drosophila melanogaster strains (N and E strain), which were homozygous for the Slow allele of the alcohol dehydrogenase locus. The E strain had been selected for increased tolerance to ethanol. This study originated from the observation that nearly all of the eggs laid by females of the E strain were inserted, while in the control strain (N strain) which was kept on regular food, considerable variation for egg insertion occurred. Crosses between the E and the N strains were made, and quantitative genetic tests were performed. It was shown that the inheritance of egg insertion is polygenic, some of the genes are probably sex linked, and in-laying is partly dominant over on-laying. The heritability of the trait, derived from mother-daughter regression analysis, was .59 +/- .18. The repeatability was high. Bidirectional selection in the E strain was unsuccessful, but an asymmetrical response to selection was obtained in the N strain and in lines derived from crosses between the N and the E strains. Selection for in-laying was more successful than for on-laying. The realized heritability in the former lines was .35 +/- .10.

Alcohol Dehydrogenase↗

PubMedDate not supplied

Genetic analysis of insulin signaling in Drosophila.

Studies in the fruit fly Drosophila melanogaster and the nematode Caenorhabditis elegans have revealed that components of the insulin signaling pathway have been highly conserved during evolution. Genetic analysis in Drosophila suggests that structural conservation also extends to the functional level. Flies carrying mutations that reduce insulin signaling have a growth deficiency phenotype similar to that seen in mice with disruptions of genes encoding insulin-like growth factors (IGFs) or the IGF-I receptor. Recent studies in flies have demonstrated a role for the insulin signaling pathway in the regulation of metabolism, reproduction and lifespan via modulation of central neuroendocrine pathways. Similarly, mice with loss of brain insulin receptors or insulin receptor substrate 2 deficiency exhibit neuroendocrine defects and female infertility. These parallels suggest that the insulin system has multiple conserved roles, acting directly to modulate growth and indirectly, via the neuroendocrine system, to modulate peripheral physiology in response to changes in nutrient availability.

Animals↗

PubMed2000

Genetic analysis reveals epidemiologic patterns in the spread of human immunodeficiency virus.

The extreme variability of human immunodeficiency virus type 1 (HIV-1) makes it possible to conduct transmission studies on the basis of genetic analysis and to trace global and local patterns in the spread of the virus. Two such patterns are discussed in this paper. First, in many European countries (e.g., Scotland and Germany), homosexual men tend to be infected with a subtly different variant of HIV-1 than intravenous drug users. In other European countries (e.g., Norway and Sweden), a distinction is also found between the two risk groups; but based on available data, the distinction is a different one. The second pattern is a worldwide tendency for homosexual men in many different geographic regions around the world to carry HIV-1 subtype B, the variant that is most prevalent in the Americas, Europe, and Australia. In contrast, people infected via other routes (mostly heterosexual contact) in those same countries carry a mixture of other subtypes. Biologic differences between the viruses infecting different risk groups have not been found; the most likely explanation for the findings is different epidemiologic patterns. Although data are still scarce, the authors attempt to use these patterns in the reconstruction of the worldwide spread of the HIV epidemic.

Europe↗

PubMed1997

Progress in the genetic analysis of fetal cells circulating in maternal blood.

The presence of fetal cells in maternal blood has been demonstrated by many investigators who continue to refine methods to permit their isolation, identification and genetic analysis. The sensitivity and specificity of this technique for noninvasive aneuploidy detection is currently being addressed in a multicenter clinical trial. Significant advances have also occurred in fetal single-cell and single-gene analysis.

Aneuploidy↗

PubMed1997

Molecular and genetic analysis of two patients with Bernard-Soulier syndrome--identification of new mutations in glycoprotein Ib alpha gene.

We investigated two unrelated patients with Bernard-Soulier syndrome (BSS) by performing molecular and genetic analysis. A flow cytometric and immunoblotting analysis showed GP Ib alpha to be absent from the platelet membrane of both patients. Other glycoproteins that formed GP Ib/IX/V complex were present on the platelets, but in decreased amounts. Therefore, GP Ib alpha gene from both cases was sequenced after PCR amplification and subcloning. We identified a homozygous mutation of a dinucleotide deletion within the TGTG repeat at cDNA number 972 to 975 in GP Ib alpha gene from Case 1. In Case 2, compound heterozygosity was demonstrated in GP Ib alpha gene; an insertion of a single base (T) at cDNA number 1,418 in one allele, and a deletion of a single base (A) within the 7-adenine repeat at cDNA number 1,438 to 1,444 in another allele. The three new mutations in both patients appeared to cause a frameshift, which created a new termination codon shortly thereafter, and thus lead to a GP Ib alpha deficiency on the platelet membrane. Truncated mutant proteins could be detected in the plasma and platelets of Case 2, but not of Case 1. According to these findings, it is thus supposed that the properties and conformation of additional COOH-terminal peptides, which were supposedly synthesized as results of the mutations, may have an important role on the processing of mutant GP Ib alpha in megakaryocytes and platelets.

Adult↗

PubMed2006

Genetic analysis of susceptibility to Chlamydia trachomatis in mouse.

Chlamydia trachomatis is a bacterial pathogen that is a major cause of blindness and infertility in diverse populations across the world. In an effort to model genetic complexities that are observed in human populations and to identify novel genes involved in susceptibility to C. trachomatis, we have adapted a murine model of systemic infection for use in genetic analysis. In this model, chlamydial colonization and replication is measured in the spleens of mice shortly after intravenous delivery of C. trachomatis L2. Here, we show that C57BL/6J and C3H/HeJ inbred mice are differentially susceptible to this systemic infection. Additionally, fibroblasts cultured from C57BL/6J and C3H/HeJ embryos are differentially permissive for chlamydial replication. We have taken advantage of this natural variation to map quantitative trait loci on Chromosomes 2, 3, and 11 that segregate with the bacterial load in F2 cross progeny during the acute phase of C. trachomatis infection in vivo. To validate our mapping results, we also generated mice that are congenic for a portion of Chromosome 11 from the susceptible parent. This congenic interval confers increased susceptibility to C. trachomatis, both in vivo and in vitro, suggesting that our screen identified at least one gene that is involved in cellular resistance to C. trachomatis replication.

Animals↗