摘要:

SummaryA cDNA clone complementary to the mRNA encoding human αaL‐lactalbumin (ALA) has been used as a probe in the analysis of DNA from panels of rodent/human somatic cell hybrids. The presence of theALAgene correlates with the presence of chromosome 12.In situhybridization localizes theALAgene to 12q

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb00869.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryThe tissue inhibitor of metalloproteinases (TIMP) is thought to play a regulatory role in connective tissues by forming inactive complexes with those metalloproteinases that are normally responsible for connective tissue turnover. The human gene encodingTIMPhas been mapped to the X chromosome in the region Xp11. 1–p11.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb00870.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryA panel of human‐rodent somatic cell hybrids containing different regions of chromosome 19 has been used to obtain a regional localization for peptidase D. The results assignPEPDto the long arm of chromosome 19, in the region cen‐g1

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb00871.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryNo recombinants betweenLWandC3, using a C3 DNA probe, were observed in 16 female meioses: z 4·216 at θ= 0·00. Combined with the data of Sistonen (1984) the recombination fraction betweenLWandC3is estimated to be 0.09 (Ẑ 3·773) in fem

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb00872.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryThe secular trend of stabilizing selection on birth weight has been studied during the last decades in 17 countries, representative of America, Asia and Europe. A relaxation of the intensity of selection is regularly observed, which can probably be attributed to a progressive reduction of the environmental component of birth weight variance.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb00873.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryWe have begun a measured genotype approach to the genetic analysis of lipid and lipoprotein variability. This approach enables one to simultaneously estimate the frequencies and effects of alleles at specific loci along with the residual polygenetic variance component. In this study we consider the contribution of three common alleles at the locus coding for apolipoproteinEto interindividual variation of total cholesterol, betalipoprotein, and triglyceride levels. A sample of 102 nuclear families consisting of 434 individuals was studied. The frequencies of the ε2, ε3, and ε4 alleles in this sample are 0·137,0·740, and 0·123, respectively. In separate analyses of cholesterol and betalipoprotein levels, a complete model that includes the effects of the sixapo Egenotypes, unmeasured polygenes, and individual specific environmental effects fits these data significantly better than a reduced model that does not include the effects of theapo Epolymorphism or a reduced model that does not include the effects of polygenes. On the average the ε2 allele lowers total cholesterol and betalipoprotein levels by 0·425 mmol/l and 0·811 units, respectively. The ε4 allele is associated with an average increase of these phenotypes by 0·255 mmol/l and 0·628 units, respectively. Simultaneous estimates of the interindividual variability of total cholesterol levels attributable to theapo Epolymorphism and to residual polygenic effects are 8% and 56%, respectively. For betalipoprotein levels, we simultaneously estimate these values to be 7% and 42%, respectively. A reduced model including the effects of polygenes but not the effects of theapo Epolymorphism fitted the triglyceride data as well as the complete model. The estimate of the fraction of interindividual variability associated with polygenetic effects was 26.5%. We review our present understanding of the genetic architecture underlying variability of cholesterol levels in the population at large and infer that the majority of the genetic variability may be accounted for by polymorphic gene loci with moderate effects on cholest

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb00874.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryAn alternative to Woolf's (1955) relative risk (RR) statistic is proposed for use in calculating the risk of disease in the presence of particular antigens or phenotypes. This alternative uses, as the control sample, the parental antigens or haplotypes not present in the affected child. The formulation of a haplotype relative risk (HRR) thus eliminates the problems of sampling from the same homogeneous population to form both the disease sample and an appropriate control.We show that, in families selected through a single affected individual, where transmission of the four parental haplotypes can be followed unambiguously, the mathematical expectation of the HRR is identical to that of the RR. Since the sample formed from the ‘non‐affected’ parental haplotypes is clearly from the same population as the disease sample, the HRR thus provides a reliable alternative to the RR. A further advantage obtains when family data are being collected as part of a study since the control sample is then automatically contained in the family material.Data from studies of patients with insulin dependent diabetes mellitus (IDDM) are used to obtain an estimate of the risk to those with HLA antigens or phenotypes associated with IDDM using the HRR statistic. A comparison of the HRR's and RR's for these data is also pres

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb00875.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryExact tests for gene order are derived and compared for three loci using linkage data from phase‐known, completely informative marker loci (i.e. parents are heterozygotes with at most one allele identical at each locus), or from triple back‐cross matings. A simulation method, based on resampling genotypes of children, is introduced to obtain approximations to the distribution of the test statistics for general mating types in families consisting of children and parents, with or without grandparents, as are used in many studies in human gene mapping. The method is illustrated by an application to linkage data on chromosome

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb00876.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryStudies of phenotypes defined by codominant alleles at two or more loci in three‐generation families allow haplotypes to be deduced. These data are easily summarized by the Mendelian convention of upper and lower case, with case defining phase rather than nature. In two‐generation families haplotypes may be inferred with high precision for closely linked loci even if an allele at one locus is recessive.Coding procedures are discussed and a simple solution to inferring the most likely order of three or more loci, and defining its likelihood compared with other orders, is presen

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb00877.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

SummaryA simple iterative method is developed for computing the maximum likelihood estimates of the components of variance and thereby the intraclass and interclass correlations, under multivariate normal assumptions involving two classes. The method works efficiently for both balanced and unbalanced data and can be readily extended to situations involving three or more classes. It is particularly suitable for application to studies of quantitative variables in genetics and is illustrated by using some dermatoglyphic data.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1987.tb00878.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY