ArticleAmerican journal of human genetics1995
CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 65 citations in OpenAlex.
- Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.Scientific reports · 2023Article
- Identification of pleiotropy at the gene level between psychiatric disorders and related traits.Translational psychiatry · 2021Article
- CFTR Gene Mutations and Asthma in Indian Children: A Case-Control Study.Indian journal of clinical biochemistry : IJCB · 2015Article
- Asthma and pulmonary function abnormalities in heterozygotes for cystic fibrosis transmembrane regulator gene mutations.International journal of clinical and experimental medicine · 2008Article
- The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.American journal of human genetics · 1997Article
- Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.American journal of human genetics · 1996Article
- Counseling and screening for cystic fibrosis in patients with congenital bilateral absence of the vas deferens: Patient perceptions.Journal of genetic counseling · 1996Article
- Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.American journal of human genetics · 1996Article
- The molecular basis for disease variability in cystic fibrosis.European journal of human genetics : EJHG · 1996Review
- How is the Human Genome Project doing, and what have we learned so far?Proceedings of the National Academy of Sciences of the United States of America · 1995Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital bilateral aplasia of the vas deferens (CBAVD) was suggested to be a mild form of cystic fibrosis (CF). Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in males with CBAVD revealed that in some males CBAVD is caused by two defective CFTR alleles. The genetic basis of CBAVD in the other males and its association with CF remained unclear. We undertook this study to test the hypothesis of commonality of CBAVD and CF by haplotype analysis, in the CFTR locus, of males suffering from CBAVD and of their families. According to the hypothesis of commonality of CBAVD and CF, two brothers with CBAVD are expected to carry the same two CFTR alleles, while their fertile brothers are expected to carry at least one different allele. Eleven families were studied, of which two families, with unidentified CFTR mutations, did not support this hypothesis. In these families two brothers with CBAVD inherited different CFTR alleles. Their fertile brothers inherited the same CFTR alleles as their brothers with CBAVD. These results provide evidence for genetic heterogeneity in CBAVD. Though in some families CBAVD is associated with two CFTR mutations, we suggest that in others it is caused by other mechanisms, such as mutations at other loci or homozygosity or heterozygosity for partially penetrant CFTR mutations.
Indexed as
Identifiers
7539210PMC1801105W1522503024What OpenQuestion holds
Registered trials
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