ABCMdb

PMID: 12919133

Cruger DG, Agerholm I, Byriel L, Fedder J, Bruun-Petersen G
Genetic analysis of males from intracytoplasmic sperm injection couples.
Clin Genet. 2003 Sep;64(3):198-203., [PubMed]

Sentences

No. Mutations Sentence Comment

36 ABCC7 p.Arg117His CFTR mutation analysis. DNA analysis of the CFTR gene included PCR-based analysis for four different mutations: the two most common (90%) CFTR mutations in the Danish population - DF508 and 394delTT (4) - and the R117H and IVS8T-5T mutations associated with infertility and congenital bilateral absence of the vas deferens (CBAVD) (5, 6). Login to comment 42 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His Results of genetic analysis of males from 392 ICSI couples and 100 controls Extreme oligospermia Severe oligospermia Oligospermia Normal sperm count Sperm count Azoospermia < 1 Â 106 1-5 Â 106 > 20 Â 106 5-20 Â 106 Unknown Controls Number 77 47 92 77 90 9 100 Y-microdeletions 5a 1 0 0 0 0 0 CFTR mutations DF508/R117H 2 0 0 0 0 0 0 394delTT/R117H 1 0 0 0 0 0 0 DF508/- 2 2 1 0 0 0 4 394delTT/- 0 0 0 0 0 0 0 R117H/- 2 0 0 1 1 0 3 IVS8T-5T/- 2 1 4 1 3 0 4 Karyotypes 47,XXY 5 1 0 0 0 0 - 46,X,del(Y) 2 0 0 0 0 0 - 46,XX ish rec(X)(Y190þ) 1 0 0 0 0 0 - 46,X,?i(Y) ish idic(Y)(q11) 1 0 0 0 0 0 - Translocations 0 0 3b 1c 0 0 - Others 0 0 0 1d 1e 0 - a Including the four non-Klinfelter men with Y-chromosome aberrations. Login to comment 59 ABCC7 p.Arg117His In the group of men with normal semen analysis, 4.4% were heterozygous (one R117H and three IVS8T-5T). Login to comment 60 ABCC7 p.Arg117His In the control group of 100 men, 4% carried the DF508 mutation, 3% the R117H mutation and 4% the IVS8T-5T mutation. Login to comment 105 ABCC7 p.Arg117His The most common mutations are DF508, R117H and IVS8T-5T (24, 25). Login to comment 112 ABCC7 p.Arg117His The IVS8T-5T mutation is probably only involved in CBAVD, whereas the R117H mutation can be involved in cystic fibrosis, especially if the 5T variant is present (26). Login to comment 114 ABCC7 p.Arg117His However, this seems unlikely as the search for DF508, 394delTT, R117H and IVS8T-5T mutations should identify >90% of CFTR mutations. Login to comment