CFTR fragment analysis of intron 8 (TG)mTn polymorphism
Abstract
A polymorphic polythymidine (Tn) locus located within splice site of IVS8 of the cystic ?brosis transmembrane conductance regulator ( CFTR ) gene is associated with variable efficiency of exon 9 splicing. Genes that carry 5T allele have the highest levels of exon 9 skipping. (TG)m tract located immediately upstream of the Tn can also modulate exon 9 skipping and may account for the partial penetrance of the 5T allele. Analysis of (TG)mTn polymorphism is important for the diagnosis of congenital bilateral absence of the vas deferens (CBAVD) and for investigation of polymorphic backgrounds of the CFTR gene. To detect poly-T-alleles, TG -repeats and molecular haplotyping (TG)mTn we developed nested PCR and fragment analysis. Allele frequencies of the 5T , 7T and 9T (N=2261) were consistent with the distribution for Caucasians. TG -repeats and (TG)mTn haplotypes were analyzed for 292 individuals. The major allele was 11TG (59.0%) аnd the major haplotypes - 7T-11TG (52.3%). 9T allele was mainly linked with 10TG (71.9%). 5T-12TG and 5T-13TG haplotypes were found in 18.0% and 1.1% of 5T chromosomes.
About the Authors
E. V. Markova
Krasnoyarsk Center for Reproductive Medicine
Russian Federation
Russian Federation
D. A. Tataru
Krasnoyarsk Center for Reproductive Medicine
Russian Federation
Russian Federation
O. G. Preda
Krasnoyarsk Center for Reproductive Medicine
Russian Federation
Russian Federation
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Review
For citations:
Markova E.V., Tataru D.A., Preda O.G. CFTR fragment analysis of intron 8 (TG)mTn polymorphism . Medical Genetics. 2017;16(1):11-19. (In Russ.)
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