ABCMdb

PMID: 14747162

Wu CC, Hsieh-Li HM, Lin YM, Chiang HS
Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens.
Hum Reprod. 2004 Feb;19(2):250-3., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Arg117His No mutations of DF508 or R117H were identi®ed in any of the samples analysed. Login to comment 30 ABCC7 p.Arg117His DNA analysis We isolated genomic DNA from peripheral blood lymphocytes and ampli®ed it with a PCR-based assay to evaluate the DF508 and R117H mutations. Login to comment 42 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg1162* ABCC7 p.Gly85Glu Screening by an INNO-LiPA CFTR17+Tn kit For further con®rmation, we used a commercial kit (INNO-LiPA CFTR17+Tn; Innogenetics, Ghent, Belgium) that allowed the detection of 17 mutations (including 394delTT, G85E, E60X, 621+1G®T, R117H, 711+5G®A, 1078delT, R347P, R334W, A455E, 2143delT, 2183AA®G, 2184delA, 2789+5G®A, R1162X, 3659delC and 3849+10kbC®T) associated with IVS8-Tn polymorphisms (5T/7T/9T) in the CFTR gene to analyse our 27 patients and 46 normal, fertile control males. Login to comment 47 ABCC7 p.Arg117His The clinical variables of 27 patients Patient no./age (years) Genetic results Ultrasonographic status Semen analyses ART DF508 R117H IVS8-Tn Kidney Seminal vesicles Volume (ml) pH Fructose 1/26 Neg Neg 5T/7T N BHy MESA 2/32 Neg Neg 5T/7T N RA+LHy MESA 3/38 Neg Neg 5T/7T N RHy+LA MESA 4/31 Neg Neg 5T/7T <1 Neg MESA 5/35 Neg Neg 7T/7T N N 1.5 MESA 6/32 Neg Neg 5T/7T MESA 7/33 Neg Neg 5T/5T RHy+LA MESA 8/28 Neg Neg 5T/7T BA 1±2 6 Neg MESA 9/31 Neg Neg 5T/7T 2±3 MESA 10/33 Neg Neg 5T/5T N BHy <1 11/33 Neg Neg 7T/7T N BHy 12/29 Neg Neg 5T/7T N BA 13/31 Neg Neg 5T/7T 0.6 MESA 14/43 Neg Neg 5T/7T N BHy 0.3 6 15/44 Neg Neg 5T/7T N N MESA 16/35 Neg Neg 5T/7T N BA 1.5 6.5 Neg TESE 17/33 Neg Neg 7T/7T N BHy 18/33 Neg Neg 7T/7T N BHy TESE 19/28 Neg Neg 7T/7T BHy 0.8 7.5 MESA 20/27 Neg Neg 5T/5T N BA 1 6.5 Neg MESA 21/33 Neg Neg 5T/7T N BHy <1 6 Neg MESA 22/43 Neg Neg 5T/7T N BHy 4 5 23/28 Neg Neg 5T/5T N RA+LHy 1 6 Neg 24/39 Neg Neg 7T/7T 25/25 Neg Neg 7T/7T 26/31 Neg Neg 7T/7T N 4 6.5 Neg 27/38 Neg Neg 5T/5T Neg, negative; N, normal; B, bilateral; R, right; L, left; Hy, hypoplasia; A, aplasia; ART, assisted reproductive technology. Login to comment 50 ABCC7 p.Arg117His We did not identify any mutations of DF508 or R117H in any of the samples analysed (Table I). Login to comment 63 ABCC7 p.Arg117His Another CF mutation, R117H, was found to occur at a high frequency in CBAVD patients (Gervais et al., 1993). Login to comment 64 ABCC7 p.Arg117His Molecular analysis of these two most-frequent CFTR mutations involved in CBAVD was performed in our 27 cases, and none of them was found to carry a single allele mutation of either DF508 or R117H. Login to comment 65 ABCC7 p.Arg117His The extremely low frequency of DF508 and R117H mutations in CBAVD patients reported here might be correlated to the rarity of CF occurrence in Taiwan. Login to comment 77 ABCC7 p.Arg117His In the present study, we found a low frequency of major CFTR mutations (DF508 and R117H) in Taiwanese CBAVD patients. Login to comment 81 ABCC7 p.Arg117His Series review of DF508, R117H and IVS8-poly T frequencies in patients with CBAVD Series No. Login to comment 82 ABCC7 p.Arg117His of cases DF508 (%) R117H (%) IVS8-Tn (%) Reference 5T 7T 9T Caucasian series German population 106 26.9 11.3 12.7 39.6 31.6 Dork et al. (1997) Spanish population 102 21.1 47.5 31.4 Chillon et al. (1995) French population 25.6 3.3 25.6 Costes et al. (1995) Canada population 25 12.0 6.0 26.0 Jarvi et al. (1995) Egyptian population 20 2.5 0 43.7 46.9 9.4 Lissens et al. (1999) Taiwanese population 27 0 0 44.4 55.6 0 This study C.C.Wu et al. atAcquisitionServicesonAugust8,2011humrep.oxfordjournals.orgDownloadedfrom may provide further evidence to explore the racial differences in this genetic disorder. Login to comment