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- Title
Penetrance of Novel Mutations of Endothelin-B receptor Gene in Pakistani Families with Waardenburg Syndrome.
- Authors
Jabeen, Raheela; Babar, Masroor Ellahi; Ahmad, Jamil; Awant, Ali Raza
- Abstract
The article presents a study which investigates novel mutations in endothelin-β-receptor gene (EDNRB) gene and their relationship with Waardenburg syndrome (WS4) in two Pakistani families named WSPK1 and WSPK2. The study uses polymerase chain reaction (PCR) and direct sequencing technique. Results show that a transition of T to C in codon in exon 5 of EDNRB gene was found in family WSPK1 while three mutations were identified in family WSPK2. It says that parents in both families have consanguineous marriage. It also discusses the identification of the penetrance of the novel mutations of EDNRB gene in the two families suffering from WS4.
- Subjects
PAKISTAN; GENETIC mutation; KLEIN-Waardenburg syndrome; ENDOTHELINS regulation; FAMILIES; GENETIC code; EXONS (Genetics); DIAGNOSTIC use of polymerase chain reaction; CONSANGUINITY; GENETICS
- Publication
Pakistan Journal of Zoology, 2012, Vol 44, Issue 2, p585
- ISSN
0030-9923
- Publication type
Article