ABCMdb

PMID: 7691870

Patrizio P, Ord T, Silber SJ, Asch RH
Cystic fibrosis mutations impair the fertilization rate of epididymal sperm from men with congenital absence of the vas deferens.
Hum Reprod. 1993 Aug;8(8):1259-63., [PubMed]

Sentences

No. Mutations Sentence Comment

11 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg553* Group II was formed by 18 patients with various other CF mutations, including four compound heterozygotes (three with Delta F508/R117H and one with R553X/R117H) and one homozygote (R117H/R117H). Login to comment 38 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr Briefly, genomic DNA extracted from peripheral lymphocytes was amplified by the polymerase chain reaction (PCR) and analysed for 12 mutations in the CFTR gene: Delta F508, G542X, G551D, R553X, W1282X, N1303K, Delta 1507, 1717G-A, R560T, S549N, R117H and 621 + 1. Login to comment 56 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* DF508/ DF508/R117H R117H/R553X R117H/R117H W1282X/ R553X/ N1303K/ G542X/ 1717G-A 21 4 Negative Table H. Login to comment 63 ABCC7 p.Arg117His Cystic fibrosis mutations and male infertility Delta F508/R117H and in two patients testing negative no spermatozoa were found. Login to comment 68 ABCC7 p.Trp1282* In nine patients the mutation identified was W1282X, a nonsense mutation on exon 20, predicting the production of truncated polypeptides. Login to comment 69 ABCC7 p.Arg553* ABCC7 p.Gly542* Four patients had other, rarer mutations (1717G-A, 1303K, G542X, R553X). Login to comment 70 ABCC7 p.Arg553* Of the four compound heterozygotes, three had a genotype Delta F508/ Rl 17H and one had Rl 17H/R553X. Login to comment 71 ABCC7 p.Arg117His ABCC7 p.Arg117His The patient homozygote had a genotype R117H/R117H. Login to comment 72 ABCC7 p.Arg117His The R117H is a missense mutation localized on exon 4. Login to comment 101 ABCC7 p.Arg117His To further stress this point, three patients were found to be compound heterozygotes with Delta F508 opposite to R117H. Login to comment