摘要:

Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations have been defined in the connexin 32 gene that cosegregate with the CMTX1 phenotype in several families. The present paper presents the results of an international consortium to fine map the gene for CMTX1 to a small segment of Xq12-13. The linkage data, together with the molecular genetic studies, support the hypothesis that connexin32 is the genetic defect in CMTX1.

ISSN:0001-5652    

DOI:10.1159/000154272

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The pattern of ACP1-ADA association in 12 Sardinian villages is dependent on altitude, suggesting that genetic and/or environmental factors may influence the interactions between the two systems. This may explain the variability of the association observed in human populations.

ISSN:0001-5652    

DOI:10.1159/000154273

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Allele distributions were determined for several VNTR loci in the general French Caucasian population, a French regional population from Brittany and in three French Canadian populations, residing either in Montréal or in one of two other regions in Québec. Allele distributions are highly polymorphic in all populations sampled. Despite a well-documented genetic founder effect in one of the populations, no disequilibrium was detected over all genotypes, within and between loci, for the data bases in this study. Moreover, there were no forensically significant differences observed between estimated frequencies of 1,964 Caucasian and non-Caucasian target DNA profiles estimated in any of the group

ISSN:0001-5652    

DOI:10.1159/000154274

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Three different p53 polymorphisms (a codon 72 BstUI RFLP, a 16-bp duplication in intron 3 and an Mspl RFLP in intron 6) and haplotype combinations were studied in three northern European populations, viz. Finns, Swedes and Swedish Saamis. Significant ethnic differences were found in the codon 72 and 16-bp polymorphisms. The three polymorphisms were in strong linkage disequilibria, all of which were highly significant (p& <1 × 10-18), and ethnic differences with respect to linkage disequilibria were observed. Estimates of the frequencies of extended haplotypes showed that the most common (‘wild-type’) haplotype in the three populations was 2-1-2, viz, the codon 72 Arg allele linked to absence of the 16-bp duplication and presence of the Mspl site. There were two additional common haplotypes, 1-1-2 and 1-2-1, and five rare haplotypes with a combined frequency of about 0.03. The present results indicate that extended haplotypes would be more informative in studies of population differences and associations between p53 germline mutations and ca

ISSN:0001-5652    

DOI:10.1159/000154275

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The gene frequencies of nine different genetic polymorphic markers [ABO, MNS and P blood groups; haptoglobin, transferrin, Gc protein, complement (C3), properdin factor B and α1-antitrypsin] were determined in 94 Mexican-Americans residing in the Los Angeles, California area. Comparisons with published data on Mexican-Americans living in other areas of the United States or in Mexico itself revealed no significant differences in the gene frequencies between this and previous studies. However, data from the current study demonstrated significant differences in ABO and haptoglobin allele frequencies compared to published non-Hispanic Caucasian data. These data suggest a large degree of genetic homogeneity in the Mexican-American population residing in the United States. Additional gene marker studies will be important to test this hypothesis and further define the degree of non-Hispanic Caucasian admixture in this population

ISSN:0001-5652    

DOI:10.1159/000154276

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The mode of inheritance of cleft lip with or without cleft palate (CL/P) has been extensively investigated, but the results are controversial. We report results of complex segregation analysis performed in the families of 636 consecutive newborns with CL/P registered in the northeast Italy and Emilia Romagna congenital malformation registries to test hypotheses regarding CL/P inheritance. The programs POINTER and COMDS have been used. POINTER could not distinguish between alternative genetic models, and only the hypothesis of no familial transmission could be rejected. COMDS results, after inclusion of the severity parameter, rejected the hypotheses of a single major locus and were consistent with the two-locus model with a major dominant locus and at least one modifier locus.

ISSN:0001-5652    

DOI:10.1159/000154277

出版商:S. Karger AG    

年代:1995

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154278

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Six multigenerational pedigrees containing multiple cases of manic-depression were genotyped with a DNA polymorphism for the norepinephrine transporter (NET) gene. Using both parametric and nonparametric methods, no evidence of linkage between manic-depression and the NET gene was found.

ISSN:0001-5652    

DOI:10.1159/000154279

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Biological markers or endophenotypes may be used to help delineate the relationships between underlying trait genotypes and trait phenotypes. However, analyzing quantitative biological markers jointly with a qualitative trait phenotype (affected versus unaffected) for linkage with genetic marker loci is not straightforward. For the situation in which both the biological marker(s) and the qualitative trait phenotype are under the control of underlying genotypes, a simple method is developed for jointly using biological marker and trait phenotype in linkage analysis. An example demonstrates its implementation in the LINKAGE programs.

ISSN:0001-5652    

DOI:10.1159/000154280

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

67 unrelated cystic fibrosis (CF) patients were screened for some of the most common mutations of the CFTR gene. This analysis resulted in the identification of 34.6% of all CF alleles. The most common mutation is ΔF508 (28.4%). Two other mutations account for a further 6.7% of the alleles (R347H: 3.0%; N1303K: 3.7%). 1677delTA, G542X, G551D, S549N/I, R553X, L558S, R334W, and R297Q were not detected

ISSN:0001-5652    

DOI:10.1159/000154281

出版商:S. Karger AG    

年代:1995

数据来源: Karger