ABCMdb

PMID: 16412743

Schulz S, Jakubiczka S, Kropf S, Nickel I, Muschke P, Kleinstein J
Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.
Fertil Steril. 2006 Jan;85(1):135-8., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Mutations R117H, R347P, G542X, G551D, R553X, 3849ϩ10kbCϾT, and N1303K were analyzed by PCR and restriction enzyme cleavage. Login to comment 47 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Among CFTR mutations detected in the German population, F508del, R117H, R347P, G542X, G551D, R553X, 3849ϩ10kbCϾT, N1303K, and CFTR2,3dele(21kb) occur with a frequency of 72%, 1%, 1.2%, 1.2%, 0.9%, 2%, 1%, 1.8%, and 1.2%, respectively (9-11). Login to comment 62 ABCC7 p.Arg117His The only 3 mutations identified were F508del (26 cases), R117H (5 cases), and CFTRdele2,3 (3 cases). Login to comment 98 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His Patients (n) IVS8T alleles 5/5 5/7 5/9 7/7 7/9 9/9 Oligozoospermia 13 - - - 10 N/N 2 N/N 1 F508del/N - Asthenozoospermia 39 - 1 N/N - 27 N/N 6 N/N 5 F508del/N - Asthenoteratozoospermia 7 - 1 N/N - 5 N/N 1 N/N - Oligoasthenozoospermia 138 - 11 N/N 1 N/N 94 N/N 2 R117H/N 24 N/N 5 F508del/N 1 N/N Oligoasthenoteratozoospermia 282 - 16 N/N 3 N/N 196 N/N 2 R117H/N 2 Ex2,3/N 53 N/N 9 F508del/N 1 N/N Cryptozoospermia 51 - 1 N/N - 38 N/N 9 N/N 1 Ex2,3/N 2 N/N Azoospermia 67 - 3 N/N 3 F508del/N 45 N/N 1 R117H/N 11 N/N 3 F508del/N 1 N/N Total 597 Note: Semen defects were classified according to WHO guidelines (1992): oligozoospermia less than 20 ϫ 106 spermatozoa/mL; asthenozoospermia less than 50% spermatozoa with forward progression (categories a and b) and less than 25% spermatozoa with category a; teratozoospermia less than 30% spermatozoa with normal morphology; oligoasthenoteratozoospermia signifies disturbances of all three variables. Login to comment