ABCMdb

PMID: 9591500

Tuerlings JH, Mol B, Kremer JA, Looman M, Meuleman EJ, te Meerman GJ, Buys CH, Merkus HM, Scheffer H
Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection.
Fertil Steril. 1998 May;69(5):899-903., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly542* The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (⌬F508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (⌬F508, R117H, and IVS8-5T) were analyzed. Login to comment 65 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly542* The three most frequent CFTR mutations causing CF in the Dutch population (⌬F508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens in the Dutch population (⌬F508, R117H, and IVS8-5T) were analyzed. Login to comment 68 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly542* ABCC7 p.Gly542* Detection of R117H, A455E, and G542X mutations was performed with the use of allele-specific amplification tests, as described by Ferrie et al. (12) for G542X and R117H. Login to comment 69 ABCC7 p.Ala455Glu For the A455E mutation, the following primers were designed (mismatch in lower case): AEC: 5Ј-GACACTACACCCATACATTCTCCTAATG-3Ј, AEM: 5Ј-TCAAGATAGAAAGAGGACAGTTGTTGtA-3Ј, and AEN: 5Ј-TCAAGATAGAAAGAGGACAGTTGTTG- GC-3Ј. Login to comment 91 ABCC7 p.Arg117His The R117H and IVS8-5T frequencies per chromosome in the normal population of the Netherlands are approximately 0.009 (2 of 232 chromosomes of 116 unaffected, unrelated individuals) and 0.037 (8 of 212 chromosomes of 106 unaffected, unrelated individuals), respectively. Login to comment 92 ABCC7 p.Ala455Glu ABCC7 p.Gly542* For the A455E, G542X, and ⌬I507 mutations, the frequency in the normal population was based on the 3.3% carrier frequency and the locally derived relative frequencies of mutations in CF patients (H.S., unpublished data). Login to comment 108 ABCC7 p.Arg117His (Ϯ SEM) of men without a CFTR mutation 15.0 (Ϯ 0.6) 3.7 (Ϯ 0.3) 2.9 (Ϯ 0.6) 7.8 17.3 (Ϯ 2.1) 63 (Ϯ 2) 16.5 (Ϯ 1.4) Patient 1 (⌬F508 mutation) 20 5.0 5 7.8 20 63 NT Patient 2 (⌬F508 mutation) 15 3.5 1 7.4 40 90 4.4 Patient 3 (R117H mutation) 13.5 8.3 0.1 7.8 1 95 13 Patient 4 (IVS8-5T stretch) 20 3.0 31 7.8 1 67 NT Note: NT ϭ not tested. Login to comment 111 ABCC7 p.Arg117His The four mutations identified were ⌬F508 (twice; 1.3% of the chromosomes analyzed), R117H (once; 0.6% of the chromosomes analyzed), and IVS8-5T (once; 0.6% of the chromosomes analyzed) (Table 2). Login to comment 132 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly542* Mutation General population* (95% CI) Patients with OAT† (95% CI) Patients with CBAVD‡ Patients with CF§ ⌬F508 0.013 (0.011-0.015) 0.013 (0.0037-0.047) 0.169 0.777 R117H 0.009 (0.0027-0.030) 0.006 (0.0012-0.037) 0.305 Ͻ0.001 IVS8-5T 0.037 (0.019-0.073) 0.006 (0.0012-0.037) 0.055 ND A455E Ͻ0.001 (ND) 0 (ND) Ͻ0.001 0.026 G542X Ͻ0.001 (ND) 0 (ND) Ͻ0.001 0.015 ⌬I507 Ͻ0.001 (ND) 0 (ND) Ͻ0.001 Ͻ0.001 Total 0.005 (ND)࿣ 0.027 (0.010-0.067) 0.529 0.818 Note: OAT ϭ oligoasthenoteratozoospermia; CBAVD ϭ congenital bilateral absence of the vas deferens; ND ϭ not done. Login to comment 133 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly542* * Locally derived frequencies for ⌬F508, R117H, and IVS8-5T (n ϭ 21,544 chromosomes, n ϭ 232 chromosomes, and n ϭ 212 chromosomes, respectively); and theoretical estimates for A455E, G542X, and ⌬I507 based on a 3.3% carrier frequency and regionally derived mutation frequencies (H.S., unpublished data). Login to comment 136 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly542* § H.S., unpublished data (n ϭ 726 for ⌬F508, A455E, and G542X; n ϭ 272 for R117H; IVS8-5T not determined). Login to comment