Simultaneous Molecular Haplotyping of Both IVS8 (TG)m and (T)n Tracts in the CFTR Gene: Still a Challenge

[摘要] Millson et al. (1) recently reported the use of melting curve analysis of hybridization probes to direct molecular haplotyping of both the IVS8 poly(TG) and poly(T) repeat tracts of the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. Precise genotyping at this locus may be clinically relevant in CFTR pathology because longer (TG)m associated with shorter (T)n repeats are less favorable for the efficiency of exon 9 splicing. In particular, the (TG)m locus influences penetrance of the T5 allele, which may be associated with male infertility by congenital bilateral absence of the vas deferens or by atypical cystic fibrosis, with discrimination between (TG)11(T)5, (TG)12(T)5,and (TG)13(T)5 being clinically relevant (2). Growing interest in this area has led to the development of several assessment methods, most of them multistep and time-consuming. The method described by Millson et al. …

[学科分类] 过敏症与临床免疫学