ABCMdb

PMID: 9194642

Mau UA, Backert IT, Kaiser P, Kiesel L
Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection.
Hum Reprod. 1997 May;12(5):930-7., [PubMed]

Sentences

No. Mutations Sentence Comment

21 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Mutation screening included δI507, δF508, in combination with other abnormalities of the semen 1717-1(G→A), G542X, G551D, R553X, W1282X, N1303K, R347P, (Bourrouillou et al., 1992). Login to comment 22 ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Arg347His In comparison, the rate of R334W, 3849ϩ10 kb C→T, R117H, R347H and poly-T allelic congenital chromosomal abnormalities in newborns is 0.5% variants in intron 8. Login to comment 62 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg347His Results and importance of molecular genetic examinations of cystic fibrosis transmembrane regulator (CFTR) mutations Mutation detection Female Male Clinical findings Remaining risk for Couple number Nationality rate (%)a mutations mutations in the male CF/CBAVD I German 82 -/- dF508/dF508 CBAVD & CF 1:280 II German 82 -/- dF508/R347H CBAVD 1:280 III German 82 dF508/- R117H/- CBAVD 1:4 IV Turkish 32 -/- R117H/- CBAVD 1:150 V Turkish 32 -/- -/- CBAVD 1:5400 VI Italian 63 -/- -/- CBAVD 1:34 300 aThe percentage indicates the frequency of the identified mutations in the reference population, based on the difference in the distribution of CFTR mutations in different populations (according to the frequencies published by the Cystic Fibrosis Genetic Analysis Consortium, 1994). Login to comment