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本文引用的文献

1
Invasive squamous cell carcinoma of the cervix: is HLA-DQ a disease marker in Jewish patients?宫颈浸润性鳞状细胞癌：HLA-DQ在犹太患者中是一种疾病标志物吗？
Eur J Immunogenet. 1993 Oct;20(5):327-33. doi: 10.1111/j.1744-313x.1993.tb00152.x.
2
Aetiology of congenital absence of vas deferens: genetic study of three generations.
Hum Reprod. 1993 Feb;8(2):215-20. doi: 10.1093/oxfordjournals.humrep.a138025.
3
Distribution of a pseudodeficiency allele among Tay-Sachs carriers.泰-萨克斯病携带者中假缺陷等位基因的分布情况。
Am J Hum Genet. 1993 Aug;53(2):537-9.
4
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.犹太和非犹太戈谢病患者中九种突变的患病率。
Am J Hum Genet. 1993 Oct;53(4):921-30.
5
Congenital bilateral absence of vas deferens in the absence of cystic fibrosis.
Lancet. 1994 Nov 26;344(8935):1473-4. doi: 10.1016/s0140-6736(94)90292-5.
6
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.与明显的β-己糖胺酶A假性缺乏相关的第二种突变：鉴定与频率估计
Am J Hum Genet. 1993 Dec;53(6):1198-205.
7
Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis.囊性纤维化突变的扩展单倍型分析及其对选择性优势假说的影响。
Hum Genet. 1993 Oct 1;92(3):289-95. doi: 10.1007/BF00244474.
8
A new mutation in the CFTR gene, composed of two adjacent DNA alterations, is a common cause of cystic fibrosis among Georgian Jews.
Genomics. 1993 Jan;15(1):236-7. doi: 10.1006/geno.1993.1046.
9
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.先天性双侧输精管缺如是囊性纤维化的一种原发性形式吗？对67例患者CFTR基因的分析。
Am J Hum Genet. 1995 Jan;56(1):272-7.
10
A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.患有肺部疾病但汗液氯化物浓度正常的患者中囊性纤维化基因的一种新突变。
N Engl J Med. 1994 Oct 13;331(15):974-80. doi: 10.1056/NEJM199410133311503.

囊性纤维化跨膜传导调节因子单倍型分析揭示先天性双侧输精管缺如病因中的遗传异质性。

CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.

作者信息

Rave-Harel N, Madgar I, Goshen R, Nissim-Rafinia M, Ziadni A, Rahat A, Chiba O, Kalman Y M, Brautbar C, Levinson D

机构信息

Department of Genetics, Life Sciences Institute, Hebrew University of Jerusalem, Israel.

出版信息

Am J Hum Genet. 1995 Jun;56(6):1359-66.

PMID:7539210
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1801105/
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.

摘要

先天性双侧输精管缺如（CBAVD）被认为是囊性纤维化（CF）的一种轻度形式。对患有CBAVD的男性进行囊性纤维化跨膜传导调节因子（CFTR）基因突变分析发现，在一些男性中，CBAVD是由两个有缺陷的CFTR等位基因引起的。其他男性中CBAVD的遗传基础及其与CF的关联仍不清楚。我们进行这项研究，通过对患有CBAVD的男性及其家族的CFTR基因座进行单倍型分析，来检验CBAVD与CF具有共同性的假设。根据CBAVD与CF具有共同性的假设，预计患有CBAVD的两兄弟携带相同的两个CFTR等位基因，而他们具有生育能力的兄弟预计至少携带一个不同的等位基因。我们研究了11个家族，其中两个家族未发现CFTR突变，不支持这一假设。在这些家族中，患有CBAVD的两兄弟继承了不同的CFTR等位基因。他们具有生育能力 的兄弟继承了与患有CBAVD的兄弟相同的CFTR等位基因。这些结果为CBAVD的遗传异质性提供了证据。虽然在一些家族中CBAVD与两个CFTR突变有关，但我们认为在其他家族中，它是由其他机制引起的，如其他基因座的突变或CFTR突变部分外显的纯合性或杂合性。