摘要:

Dehydroepiandrosterone sulfate (DHEAS) is an adrenal steroid which has been inversely associated with development of atherosclerosis. We estimated heritability of serum DHEAS levels in 564 related Mexican Americans. We found a significant heritability for DHEAS (h2 = 0.39, p < 0.001). Measures of alcohol consumption, reproductive status, body composition, and HDL3 levels showed significant relationships with serum DHEAS levels. Sex and age were significantly associated with the mean, but not the genetic variance, of DHEAS levels. The results of this study demonstrate a significant genetic influence on steroid concentration and help to quantify the factors contributing to cardiovascular disease risk in Mexican Americans.

ISSN:0001-5652    

DOI:10.1159/000154368

出版商:S. Karger AG    

年代:1996

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154369

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Analysis of haplotypes of three intragenic, highly polymorphic microsatellite markers (IVS8CA, IVS17BTA, IVS17BCA) of the CFTR gene was performed on a sample of 96 CF chromosomes of Polish origin. Twenty different haplotypes were detected in ΔF508 chromosomes. Of these, four haplotypes (23-31-13; 23-32-13; 17-31-13; 17-32-13) represent 67.1% of the overall pool of ΔF508 chromosomes. Distribution of these haplotypes, together with frequencies of the ΔF508 mutation, are intermediate between Northern- and Southern-European populations and correlate with established gradien

ISSN:0001-5652    

DOI:10.1159/000154370

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Crossover interference is now known to exist in humans but to date has been ignored in routine genetic mapping because of the computational burden involved. In a recent paper by Weeks et al. [Hum. Hered. 1993;43:86-97], interference was accounted for by the use of a variety of multilocus feasible map functions and a crossover model of Goldgar and Fain [Am J Hum Genet 1988;43:38-45]. In this paper, we present an alternative approach to incorporating crossover interference into multilocus likelihood computation, by modelling the underlying chiasma process directly using the χ2 model, supplemented by an assumption of no chromatid interference. This procedure was applied to the same CEPH consortium chromosome 10 data set that was analyzed by Weeks et al. A fit to the data was achieved which was significantly better than that offered by the no-interference model, and comparable to the best of the alternatives considered by Weeks et al. We briefly discuss the relative merits of the different models for interference

ISSN:0001-5652    

DOI:10.1159/000154371

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Panaquire is a population in Venezuela founded in 1733 by Spaniards from the Canary Islands. In order to define the genetic characteristics of this population the following loci were studied: ABO, RH (Cc, D, Ee), FY, K, JK, HB, ESD, ACP1, HP, TF, CP and ALB. Its sociohistorical features were also investigated. Historic censuses reveal that ethnically Blacks were the most important group in this village during the year 1800 (76%), followed by Amerindians (9%), Mulattoes (5%) and Whites (7%). The results of this analysis show that presently the most important genetic component is of African origin (59%), followed by Amerindian (26%) and Caucasian (15%) contributions. These results suggest that Canarians founded Panaquire, but unfavorable sociopolitical and environmental circumstances, as well as the entrance of former slaves, determined the village’s evolution as a Black population. Important gene flow also occurred from Indian settlements, and some admixture with Whites. Our analysis shows once again the importance of handling together genetic and sociocultural variables to have a better interpretation of the evolution of human population

ISSN:0001-5652    

DOI:10.1159/000154372

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

We studied 17 pedigrees with 108 affected males with X-linked juvenile retinoschisis (RS; McKusick No. 31270) and have analyzed all of the known polymorphic markers in the RS region of Xp22.1-p22.2 between DXS987 and DXS41. By haplotype analyses we found 7 individuals who showed crossovers in this interval surrounding RS. We previously reported AFM291wf5 as the centromeric boundary, and this remains unchanged in the present study. A new recombination was identified on the telomeric side at (DXS1195, DXS418). Our data support the locus order Xpter – (DXS987, DXS207, DXS1053, DXS43) – (DXS1195, DXS418) – (RS, DXS257, DXS999) – (AFM291wf5, DXS443) – DXS 1052 – (DXS 1226, DXS274, DXS41) – Xcen; loci grouped in parentheses could not be mutually ordered by our genetic data. Physical mapping has indicated a distance of at most 900-1,000 kb between (DXS 1195, DXS418) and AFM291wf5. No recombination was observed between RS and DXS257 which lies in our new interval of interest, but one critical individual was not informative with this marker. Our data now define the smallest RS inclusion interval. This interval is contained on a single YAC from which we have identified expressed sequences as candidate

ISSN:0001-5652    

DOI:10.1159/000154373

出版商:S. Karger AG    

年代:1996

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154374

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

A new two-allele PCR-based Mspl restriction fragment length polymorphism (RFLP) was revealed at the human LDL receptor locus. The polymorphic Mspl restriction site is located in the 3’-untranslated region of exon 18 and caused by a T to C substitution at nucleotide 3960. This new Mspl RFLP may be useful with other informative RFLPs to follow the segregation of the LDL receptor gene in families with hypercholesterolemi

ISSN:0001-5652    

DOI:10.1159/000154375

出版商:S. Karger AG    

年代:1996

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154376

出版商:S. Karger AG    

年代:1996

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154377

出版商:S. Karger AG    

年代:1996

数据来源: Karger