摘要:

SummaryThe geneMUC3which codes for a mucin expressed in intestine (Gumet al.1990) has previously been mapped, using somatic cell hybrids, to chromosome 7. We describe here the regional localization ofMUC3to chromosome 7q22 byin situhybridization. Preliminary linkage analysis using CEPH (Centre d'Étude du Polymorphisme Humain) families supports this assignment and placesMUC3in the same linkage group asCOL1A2andCFTR

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1992.tb01154.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

SummaryThe mouse genes for cytosolic phosphoenolpyruvate carboxykinase‐1 (Pck‐1) and neuronal nicotinic acetylcholine receptor a4 subunit (Acra‐4) both map to distal chromosome 2 (Siracusaet al.1989; Bessiset al.1990). We have utilized Southern blot analysis on human/rodent somatic cell hybrids to map the human homologues of both of these genes, PCK1 and CHRNA4, to human chromoso

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1992.tb01155.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

SummaryThe AD1 locus on chromosome 21 (MIM 104300) maps to the β‐amyloid precursor locus (APP) at approximately 27·7 Mb from pter (10·9 cM in males and 33·9 cM in females), flanked proximally by D21S8 and distally by D21S111, with D21S124 and D21S210 close but of uncertain order. AD1 accounts for 63±11 % of multiplex Alzheimer pedigrees for which lod scores have been reported. Since a much smaller proportion of pedigrees have mutations in the cDNA for β‐amyloid (APP exons 16 and 17), it is likely that the AD1 locus spans controlling elements near those exons. There is no evidence for a second locus on chromosome 21. The remaining pedigrees may include sporadic cases as well as mutations at an AD2 locus on another c

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1992.tb01156.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

SummaryWe characterized four DNA polymorphisms on the Y chromosomes of 123 males from five Caucasian populations. Three markers on the male specific portion of the chromosome varied appreciably in frequency among the populations. When combined, these markers define a limited number of haplotypes compared with the maximum expected on the basis of random association. The associations found in the five groups are qualitatively similar and are thus considered to be relatively stable on an evolutionary time‐scale and possibly to predate the divergence of Caucasian populations. However, the haplotype frequencies varied markedly among populations, even between weakly isolated areas such as northernvs.southern Sardinia. This may indicate rapid progression towards fixation of alternative types of Y chromosomes.We also report data suggesting that the same associations no longer hold when examining a marker as close as 275 bp from the boundary of the pseudoautosomal region on the Y chromosom

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1992.tb01157.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

SummaryThe probe 47z detects DNA polymorphisms on both the X and Y chromosomes. Blood samples were collected from Korean, Chinese, Jewish, Caucasian and Negro populations and polymorphisms of both loci were compared with findings previously reported in Japanese. Both Y1 and Y2 alleles were detected in Japanese and Koreans. However, only the Y1 allele was detected in each of the other populations. Although, both X1 and X2 alleles were detected in all examined populations, the frequency of the X2 allele was very low among Negroes.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1992.tb01158.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

SummaryMitochondrial DNA (mtDNA) restriction fragment length polymorphisms (RFLPs) were investigated in 95 individuals, consisting of 49 San (‘Bushmen’) and 46 Nama (‘Hottentot’) individuals from Namibia, using the restriction enzymesHpaI,BamHI,HaeII,MspI,AvaII andHincII. Six of the eleven types found in the pooled Khoisan sample are shared, albeit at varying frequencies, suggesting that both the San and Nama have evolved from a recent common ancestor. However, San and Nama groups differ appreciably, in particular, type 3‐2 (3‐1‐1–2‐2‐2) was found in 7/49 Sekele and 25/46 Nama (χ2[1]= 15·3,P= 9·17 × 10‐5). In addition, type 4 makes up 428 % of the types found in the San, and is not found in the Nama group. This suggests that the San and Nama have evolved along separate lineages, with little gene flow between them, following their proposed separation from a common Khoisan ancestor. Type 7‐2 (3‐1‐1‐1‐1‐2), most common in Negroid populations, is found at a higher frequency in the San (20·4%) than the Nama (6·5%), suggesting that miscegenation involving Negroid females and San males is more common than that between Negroid females and Nama men. The higher frequency of type 21‐2 (2‐1‐1‐1–2‐2) in the Nama (13%) than in the San (4·1%), may be attributable to gene flow from the Dama into the Nama, consistent with the

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1992.tb01159.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

SummaryThe likelihood of a genotype of an unsampled individual depends upon genetic data from relatives. When these relatives may be carriers of a mutation as in X‐linked disease, the likelihood of a genotype is altered by the consequences of the possible genotypes on offspring. The probabilities of the possible genotypes are easily derived from the probabilities conditional on the genotype obtained from a computer program aimed at risk calculation. This procedure of genotype reconstruction brings to light a potential hazard in the interpretation of computer data: a compound risk may be better represented as the harmonic mean of a set of conditional probabilities than the simple average of these probabilitie

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1992.tb01160.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

SummaryThe N‐test of haplotype concordance among siblings affected by some disease under investigation is used to decide whether there is a disease susceptibility gene linked to a marker locus or chromosomal region. The use of this test and appropriate modifications of it is briefly reviewed. The power of the ordinary N‐test is then derived as a function of several parameters. The sample size needed to attain a given power is then derived. Some of the parameters are specified and the required sample sizes are given in tables for different values of the main unknown paramet

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1992.tb01161.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

SummaryGenetic identity coefficients define the kind and amount of gene sharing between two relatives at a single locus. Non‐recursive computation of these probabilities depends on cumbersome graph‐tracing algorithms. Closely related to the identity coefficients are certain generalized kinship coefficients which can be computed recursively. The present paper clarifies some ideas of Karigl about how to relate identity coefficients to generalized kinship coefficie

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1992.tb01162.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1992.tb01163.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY