ABCMdb

PMID: 11788091

Ravnik-Glavac M, Svetina N, Zorn B, Peterlin B, Glavac D
Involvement of CFTR gene alterations in obstructive and nonobstructive infertility in men.
Genet Test. 2001 Fall;5(3):243-7., [PubMed]

Sentences

No. Mutations Sentence Comment

55 ABCC7 p.Ser1235Arg The second, S1235R, was previously shown to cause 'hyper`-active chloride chan- nels (Wei et al., 2000). Login to comment 56 ABCC7 p.Arg297Gln ABCC7 p.Arg297Gln The third, R297Q, was originally reported in patients with the classical disease (Cutting et al., 1992), but it has more recently been described in healthy persons who have also inherited a known pathological CF mutation, making it more likely that R297Q is a polymorphismrather than a deleterious mutation (Dorval et al., 1995). Login to comment 58 ABCC7 p.Ser1235Arg ABCC7 p.Arg297Gln R297Q and S1235R were each detected as a single allele in men with oligoas- thenoteratozoospermiaand oligozoospermia, respectively. Login to comment 66 ABCC7 p.Arg75Gln ABCC7 p.Ser1235Arg ABCC7 p.Arg297Gln DETECTED NUCLEOTIDE ALTERATIONS IN CFTR GENES AND THEIR FREQUENCY IN MEN WITH INFERTILITY AND SUBFERTILITY AND IN CONTROL POPULATION CFTR Nucleotide Amino acid Type of Azoo Oligo OAT CBAVD Controls gene change change change (n 5 160) (n 5 100) (n 5 140) (n 5 14) (n 5 190) Ex 3 356G ® A R75Q P 2 0 1 0 1 Int 3 405 1 35C ® T / V 1 0 0 0 0 405 1 46G ® T / P 4 0 3 0 1 Ex 4 519T ® A L129L V 0 1 0 0 0 549C ® T H139H V 0 1 0 0 0 Ex 7 1022G ® A R297Q M 0 0 1 0 0 Int 8 IVS8-5T / P 8 4 10 3 8 Ex 10 1652del3 DF508 M 1 2 0 2 3 Int17a 3272-93T ® Ca / P 6 2 4 0 4 Ex17b 3417A ® T T1095T P 2 0 1 0 3 Ex 19 3837T ® G S1235R M 0 1 0 0 0 Ex 20 4002A ® G P1290P P 6 2 4 0 4 Ex 21 4029A ® G T1299T P 0 0 1 0 1 Abbreviations: P, Polymorphism; Azoo, azoospermia; V, variation; Oligo, oligozoospermia; M, pathogenic mutation; OAT, oligoasthenoteratozoospermia CBAVD, congenital bilateral absence of the vas deferens; Ex, exon; Int, intron. Login to comment