ABCMdb

PMID: 9345100

Meschede D, Dworniczak B, Behre HM, Kliesch S, Claustres M, Nieschlag E, Horst J
CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles.
Am J Hum Genet. 1997 Nov;61(5):1200-2., [PubMed]

Sentences

No. Mutations Sentence Comment

22 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* DNA was isolated from peripheral lymphocytes, and target sequences were amplified by PCR. Direct testing by allele-specific amplification, heteroduplex analysis, or by restriction analysis was performed in all patients, for detection of the following CFTR gene mutations: R117H, R347P, DI507, DF508, 1717-1 GrA, G542X, G551D, R553X, 3849af9;10 kB, W1282X, and N1303K. Login to comment 23 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Direct testing by allele-specific amplification, heteroduplex analysis, or by restriction analysis was performed in all patients, for detection of the following CFTR gene mutations: R117H, R347P, DI507, DF508, 1717-1 GrA, G542X, G551D, R553X, 3849ϩ10 kB, W1282X, and N1303K. Login to comment 25 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Ile1139Val It is common among men with CBAVD (De Braekeleer and Fe &#b4;rec 1996) and may here, Letters to the Editor Table 1 Summary of Mutation Analysis in CFTR Gene in 16 Men with IASV and in 7 Men with BEDO Diagnosis CFTR Genotypea T5/T7/T9 IASV af9;/af9; 7/7 IASV af9;/af9; 7/7 IASV af9;/af9; 7/7 IASV af9;/af9; 7/7 IASV af9;/af9; 7/7 IASV af9;/af9; 7/7 IASV af9;/af9; 7/9 IASV af9;/af9; 7/7 IASV af9;/af9; 7/7 IASV af9;/af9; 7/7 IASV af9;/af9; 7/7 IASV af9;/af9; 5/7 IASV af9;/af9; 7/7 IASV af9;/af9; 7/7 IASV I1139V/af9; 7/9 IASV af9;/af9; 7/7 BEDO DF508/af9; 9/5 BEDO DF508/R117H 9/7 BEDO af9;/af9; 7/9 BEDO DF508/R117H 9/7 BEDO R553X/af9; 7/5 BEDO R347P/af9; 7/7 BEDO DF508/af9; 9/5 a A plus sign (af9;) denotes the wild-type allele (i.e., no mutation was detected). Login to comment 26 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Ile1139Val It is common among men with CBAVD (De Braekeleer and Fe´rec 1996) and may here, Letters to the Editor Table 1 Summary of Mutation Analysis in CFTR Gene in 16 Men with IASV and in 7 Men with BEDO Diagnosis CFTR Genotypea T5/T7/T9 IASV ϩ/ϩ 7/7 IASV ϩ/ϩ 7/7 IASV ϩ/ϩ 7/7 IASV ϩ/ϩ 7/7 IASV ϩ/ϩ 7/7 IASV ϩ/ϩ 7/7 IASV ϩ/ϩ 7/9 IASV ϩ/ϩ 7/7 IASV ϩ/ϩ 7/7 IASV ϩ/ϩ 7/7 IASV ϩ/ϩ 7/7 IASV ϩ/ϩ 5/7 IASV ϩ/ϩ 7/7 IASV ϩ/ϩ 7/7 IASV I1139V/ϩ 7/9 IASV ϩ/ϩ 7/7 BEDO DF508/ϩ 9/5 BEDO DF508/R117H 9/7 BEDO ϩ/ϩ 7/9 BEDO DF508/R117H 9/7 BEDO R553X/ϩ 7/5 BEDO R347P/ϩ 7/7 BEDO DF508/ϩ 9/5 a A plus sign (ϩ) denotes the wild-type allele (i.e., no mutation was detected). Login to comment 30 ABCC7 p.Ile1139Val Among the 16 patients from the IASV group, 1 subject was found to be heterozygous for the rare CF mutation I1139V (Teng et al. 1994), and another was found to be heterozygous for the T5 allele. Login to comment 31 ABCC7 p.Ile1139Val Among the 16 patients from the IASV group, 1 subject was found to be heterozygous for the rare CF mutation I1139V (Teng et al. 1994), and another was found to be heterozygous for the T5 allele. Login to comment 32 ABCC7 p.Arg117His ABCC7 p.Arg553* Compound heterozygosity for DF508/R117H was detected in two patients, for DF508/T5 in another two, and for R553X/ T5 in one. Login to comment 33 ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg347Pro Compound heterozygosity for DF508/R117H was detected in two patients, for DF508/T5 in another two, and for R553X/ T5 in one. Login to comment 34 ABCC7 p.Arg347Pro One man was heterozygous for R347P. Login to comment 35 ABCC7 p.Arg117His His father carries the DF508 mutation, and his mother carries the R117H mutation, proving that in the index patient the two mutations are in the trans phase. Login to comment 36 ABCC7 p.Arg117His His father carries the DF508 mutation, and his mother carries the R117H mutation, proving that in the index patient the two mutations are in the trans phase. Login to comment 43 ABCC7 p.Arg117His R117H and the T5 allele are rarely found in full-blown CF, but they contribute to a major degree to the molecular pathology underlying both CBAVD (De Braekeleer and Fe &#b4;rec 1996) and BEDO with concomitant seminal-vesicle anomalies. Login to comment 44 ABCC7 p.Arg117His R117H and the T5 allele are rarely found in full-blown CF, but they contribute to a major degree to the molecular pathology underlying both CBAVD (De Braekeleer and Fe´rec 1996) and BEDO with concomitant seminal-vesicle anomalies. Login to comment