Congenital bilateral absence of the vas deferens (CBAVD): Possible correlation between cystic fibrosis (CF) genotype and antisperm antibodies (ASA) phenotype
- Maimonides Medical Center, Brooklyn, NY (United States)
- UniGen, Buenos Aires (Argentina)
- Beth Israel Medical Center, New York, NY (United States)
A large number of CBAVD patients have been found to carry at least one known CF mutation. Several of these individuals have been shown to be compound heterozygotes. It is likely that most CBAVD cases represent the milder end of the CF spectrum. However, in a given CBAVD patient with no known mutations found (within current screening capabilities), it is not possible to conclude a CF relationship. Since CBAVD patients have been successfully treated for infertility with epididymal aspiration techniques, there are reproductive and clinical implications regarding CF. We have studied seven CBAVD patients (P{sub 1}-P{sub 7}) with regards to presence and levels of ASA and their CF genotypes. An indirect immunobead binding test was used to measure ASA. ASA were found in 5/7 (71%) patients studied. High levels of IgG binding to sperm tail-tip were found in two cases (P{sub 2}, P{sub 4}); IgG binding to all sperm regions and IgA binding to sperm head were found in one case (P{sub 5}); IgM binding to tail-tip was found in two cases (P{sub 1}, P{sub 3}). Three patients (P{sub 1}, P{sub 3}, P{sub 4}) had a {triangle}F308 / ? and two (P{sub 2}, P{sub 5}) a W1282X / ? genotype. Interestingly, the two patients with no known mutation found (P{sub 6}, P{sub 7}) had negative ASA. The study of more patients could yield ASA as a potential indirect marker for relatedness of CBAVD to CF gene mutations.
- OSTI ID:
- 134567
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1301
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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