ABCMdb

PMID: 15463840

Anzai C, Morokawa N, Okada H, Kamidono S, Eto Y, Yoshimura K
CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens.
J Cyst Fibros. 2003 Mar;2(1):14-8., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Gln1352His ABCC7 p.Gly1349Ser ABCC7 p.Trp216* Three missense mutations (W216X, G1349S, Q1352H) were found in seven CFTR alleles, and the 5T allele was positive in 11 of 38 CFTR patient alleles. Login to comment 50 ABCC7 p.Gln1352His ABCC7 p.Gly1349Ser ABCC7 p.Trp216* Results Using PCR-SSCP analysis followed by direct sequencing, we could detect three missense mutations in a total of seven CFTR alleles: W216X (779GࡊA) in exon 6a; G1349S (4177GࡊA); and Q1352H (4188GࡊC) in exon 22 (Table 1). Login to comment 51 ABCC7 p.Gln1352His Q1352H mutation was the most frequent one detected in as many as five individuals with the disease. Login to comment 52 ABCC7 p.Gly1349Ser ABCC7 p.Trp216* W216X and G1349S were novel mutations and have been deposited in the CF database w7x. Login to comment 54 ABCC7 p.Glu217Gly ABCC7 p.Gln1352His In contrast, in 53 normal individuals similarly tested, E217G was found in one chromosome and Q1352H was in two, but no other mutations were detected (data not shown). Login to comment 61 ABCC7 p.Gln1352His ABCC7 p.Gln1352His ABCC7 p.Gln1352His ABCC7 p.Gly1349Ser ABCC7 p.Trp216* In particular, five patients were compound heterozygotes: patient 1 was associated with G1349S and Q1352H, patient 2 with W216X and Q1352H, and patients 3, 4 and 5 with Q1352H and 5T. Login to comment 81 ABCC7 p.Gly1349Ser ABCC7 p.Trp216* Among the mutations found in CBAVD patients, G1349S and W216X are quite novel and which we deposited in the CF database in 1999 w7x. Login to comment 82 ABCC7 p.Gln1352His Another mutation, Q1352H, which was previously described by other Japanese investigators w7x, is likely the most prevalent alteration in Japan. Login to comment 85 ABCC7 p.Gln1352His Furthermore, it should be determined in the future whether or not this common Q1352H CF allele might be associated with other types of 'CFTRpathies` including the classical form of CF in the Japanese population w16x. Login to comment 89 ABCC7 p.Gln1352His This may be true, since three normal individuals had one mutated CFTR allele, two of which were Q1352H, as stated above. Login to comment