ABCMdb

PMID: 9067761

Zielenski J, Patrizio P, Markiewicz D, Asch RH, Tsui LC
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
Hum Mutat. 1997;9(2):183-4., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Ser50Tyr MUTATION IN BRIEF Identification of Two Mutations (S50Y and 4173delC) in the CFTR Gene From Patients With Congenital Bilateral Absence of Vas Deferens (CBAVD) J. Zielenski1 , P. Patrizio2 , D. Markiewicz, R.H. Asch2 , and L.-C. Tsui1,3* 1 Department of Genetics, Hospital for Sick Children, Toronto, Canada 2 Department of Obstetrics and Gynecology, University of California at Irvine, Orange, California 3 Departments of Molecular and Medical Genetics, University of Toronto, Toronto, Canada M5G IX8; Fax: 416-813-4931 Communicated by Garry R. Cutting INTRODUCTION The frequent detection of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene among congenital bilateral absence of vas deferens (CBAVD) patients implicates that this disease is a CF-associated abnormality. Login to comment 2 ABCC7 p.Ser50Tyr During a systematic screening of 70 CBAVD patients for mutations in the CFTR gene, we found two novel mutations (S50Y and 4173delC). Login to comment 4 ABCC7 p.Ser50Tyr ABCC7 p.Ser50Tyr S50Y S50Y is a missense mutation that was detected in exon 2 of the CFTR gene after amplification with primers: 2i-5 and 2i-3 (Zielenski et al., 1991b). Login to comment 7 ABCC7 p.Ser50Tyr This nucleotide change leads to substitution of serine for tyrosine at position 50 of theCFTR polypeptide. Login to comment 10 ABCC7 p.Ser50Tyr Since the other chromosome of this patient carries a severe mutation (aF508), the S50Y may be considered as a very mild allele contributing to development of the CBAVD condition. Login to comment