Human Reproduction, Vol. 17, No. 8, 2066-2072,
August 2002
© 2002 European Society of Human Reproduction and Embryology
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens
1 Center for Human Genetics and the Departments of Pediatrics and 2 Urology, Boston University School of Medicine and Boston Medical Center, Boston, MA, USA
BACKGROUND: Limited mutation analysis for congenital bilateral absence of the vas deferens (CBAVD) has revealed only a minority of men in whom two distinct mutations were detected. We aimed to determine whether a more extensive mutation analysis would be of benefit in genetic counselling and prenatal diagnosis. METHODS: We studied a cohort of 92 men with CBAVD using mass spectrometry and primer oligonucleotide base extension to analyse an approximately hierarchical set of the most common 100 CF mutations. RESULTS: Analysis of 100 CF mutations identified 33/92 (35.9%) patients with two mutations and 29/92 (31.5%) with one mutation, compound heterozygosity accounting for 94% (31/33) of those with two mutations. This panel detected 12.0% more CBAVD men with at least one mutation and identified a second mutation in >50% of those considered to be heterozygotes under the two routine 25 mutation panel analyses. CONCLUSION: Compound heterozygosity of severe/mild mutations accounted for the vast majority of the CBAVD patients with two mutations, and underscores the value of a more extensive CF mutation panel for men with CBAVD. The CF100 panel enables higher carrier detection rates especially for men with CBAVD, their partners, partners of known CF carriers, and those with ‘mild’ CF with rarer mutations.
Key words: congenital bilateral absence of the vas deferens/cystic fibrosis/genetic testing/mass spectrometry/mutation detection
3 To whom correspondence should be addressed at: Center for Human Genetics, Boston University School of Medicine, 715 Albany Street, W-408, Boston, MA 02118, USA. E-mail: amilunsk{at}bu.edu
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