ABCMdb

PMID: 17580535

Dinic J, Kusic J, Nikolic A, Divac A, Ristanovic M, Radojkovic D
Analysis of Y chromosome microdeletions and CFTR gene mutations as genetic markers of infertility in Serbian men.
Vojnosanit Pregl. 2007 Apr;64(4):253-6., [PubMed]

Sentences

No. Mutations Sentence Comment

60 ABCC7 p.Asp1152His Mutations in the CFTR gene were detected on eight out of 66 analyzed chromosomes of infertile men, while the presence of 5T Table 1 Y chromosome microdeletions and CFTR gene mutations detected in infertile men Group of patients Number of patients Y chromosome microdeletion CFTR gene mutation / polymorphism 1 AZFc F508del / 711+3A/G 1 AZFb - 3 - F508del / 5T Obstructive azoospermia (n = 10) 1 - F508del 1 - F508del / D1152H 2 - 5T Impaired spermatogenesis (n = 11) 1 AZFa + AZFc - 1 AZFc - Unknown cause of infertility (n = 12) 1 - 5T Volumen 64, Broj 4 VOJNOSANITETSKI PREGLED Strana Dinić J, et al. Vojnosanit Pregl 2007; 64(4): 253-256. variant of Tn polymorphism was detected on six chromosomes. Login to comment 62 ABCC7 p.Phe508Cys Common polymorphisms F508C, 2694T/G, 4002A/G and 4029A/G were detected in several patients in each of the three groups. Login to comment 72 ABCC7 p.Asp1152His This patient was a compound heterozygote for F508del and D1152H mutations. Login to comment 73 ABCC7 p.Asp1152His Mutation D1152H is considered to be mild, exerting with borderline or even normal levels of chloride in sweat, with relatively preserved permeability of the chloride channel, but severely reduced cAMP-activated flow of the chloride ions in the cell 14 . Login to comment 84 ABCC7 p.Asp1152His In two patients who were found to be compound heterozygotes for CFTR mutations (F508del/711+3A→G and F508del/D1152H) azoospermia and impaired spermatogenesis could be explained by the presence of mutations on both alleles of the CFTR gene. Login to comment 141 ABCC7 p.Arg117His Shrimpton AE. R117H and IVS8-5T cystic fibrosis mutation detection by restriction enzyme digestion. Login to comment