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  • 1985-1989  (6)
  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Genetic variation in the C1R subcomponent of the first complement component C1 was investigated in U.S. whites by isoelectric focusing and immunoblotting. In addition to the previously described two alleles, the products of a new and rare third allele designated C1R *3 were detected. The expression of the new allele is consistent with autosomal codominant inheritance, which is confirmed by family data. The frequencies of the C1R *1, C1R *2 and C1R *3 alleles in 201 randomly selected U.S. whites are: 0.908, 0.090, and 0.002, respectively.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Apolipoprotein H (APO H) has recently been identified as a structural component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL). Although the precise metabolic function of APO H in lipid metabolism is not certain, it has been suggested that APO H may be involved in triglyceride (TG) metabolism. In addition to the previously described quantitative polymorphism, we have recently detected a common qualitative polymorphism at the APO H structural locus. To test the role of APO H genetic variation in determining lipoprotein and lipid levels, we have estimated the allelic effects of APO H variation on TG, VLDL, LDL, HDL, HDL3, and total cholesterol on 356 Nigerian blacks(189 males, 167 females). While no significant effect of phenotype was observed on lipoprotein levels, the effect of interaction between phenotype and gender was significant. Therefore, data on males and females were analyzed separately using analysis of variance after adjusting for age and body mass index. Logarithmic transformation of pertinent variables was done to bring the distribution of the variables closer to normality. A statistically significant effect of phenotype was observed on triglyceride levels in females only (P〈0.05). Further analysis of this phenotypic effect revealed that it is due to the impact of the APO H * 3 allele, which raises triglycerides by 9.92 mg/dl as compared to the common allele, APO H * 2. These findings are in accordance with the postulated role of APO H in triglyceride metabolism. On the basis of its sex-specific effect, we propose a hypothesis that may explain the combined influence of the quantitative and qualitative polymorphisms at the APO H locus on triglyceride levels in females.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Since the discovery in 1977 that the GC1 gene could be resolved into two common subcomponents on an isoelectric focusing (IEF) gel, a large number of ethnic groups have been screened to analyze the extent of genetic variation in human populations. Using the IEF technique, approximately 50,000 individuals from 160 different populations have been tested for the GC polymorphism. A marked variation in common GC suballele frequencies in different geographic areas seems to correlate with skin pigmentation and intensity of sun light. Pigmented (black) and keratinized (yellowish) skin type populations have a relatively high frequency of the GC *IF allele as compared to white skin populations. By comparison non-pigmented and non-keratinized white skin populations are generally characterized by having the maximum values of the GC *IS allele. The anthropologic significance of the GC locus has been enhanced further by detecting additional unique GC variants which provide useful information about evolutionary links between different populations. However, the presence of some electrophoretically identical unique variants in genetically and geographically distinct populations demand further investigation of these allelic variants to shed more light on their origins.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 84 (1989), S. 102-102 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-0428
    Keywords: Type 2 (non-insulin dependent) diabetes mellitus ; association ; Rhesus blood group ; haptoglobin ; group specific component
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Type 2 (non-insulin-dependent) diabetes mellitus, a disease of complex aetiology, has been reported to be nonrandomly associated with several polymorphic markers in human populations. These data, plus evidence of a high prevalence of Type 2 diabetes mellitus in American Indians and mixed populations, such as Mexican-Americans, which is only partially attributable to the prevalence of obesity in these populations, makes it imperative that the nature of such associations be clarified in relation to genetic susceptibility to Type 2 diabetes mellitus. The present paper reports the results of tests of association between Type 2 diabetes mellitus and seven polymorphic markers: the blood groups — ABO, Rhesus, Duffy and Kell (K and KP) — haptoglobin and group specific component; among Anglo and Hispanic populations in the San Luis Valley of Colorado, USA. The sample population consisted of 788 individuals of which 398 were Anglo subjects (97 Type 2 diabetes mellitus patients and 301 normal individuals) and 390 Hispanic subjects (191 Type 2 diabetes mellitus patients and 199 normal individuals). Association between Type 2 diabetes mellitus and genetic markers in patients was tested using the G2 statistic within each ethnic class using normal frequencies as a comparison. Results of the tests indicated that only the Kell blood group was significantly associated with Type 2 diabetes mellitus at a 5% level among the Anglo subjects (G2=5.16, 1df). This significant value can be explained by chance alone, if multiple comparisons are taken into account. Our tests have not shown the previously reported haptoglobin or Rhesus blood group associations seen in Mexican-Americans in San Antonio, Texas.
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  • 6
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Charge-based structural variation has been observed in the C1, subcomponent of the first complement component C1 after isoelectric focusing and immunoblot-ting. One common and two uncommon autosomal co-dominantly expressed alleles, designated ClS*1, ClS*2 and ClS*3, have been recognized at the ClS structural locus. The frequency of these alleles was 0·979, 0·016 and 0·005, respectively, in a U.S. white population. No variation at the ClS locus was observed in a U.S. black sample (n = 95).
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