Please use this identifier to cite or link to this item: http://scholarbank.nus.edu.sg/handle/10635/17630
Title: A medical molecular genetics of Orofacial clefting: Role of ABC Transporter Polymorphisms in Disease Risk
Authors: ARDESHIR OMOUMI
Keywords: Orofacial clefting, Functional polymorphisms, ABCB1 (e12/1236, e21/2677, e26/3435), Disease susceptibility
Issue Date: 10-Sep-2008
Source: ARDESHIR OMOUMI (2008-09-10). A medical molecular genetics of Orofacial clefting: Role of ABC Transporter Polymorphisms in Disease Risk. ScholarBank@NUS Repository.
Abstract: Family based association and case-control studies were conducted to investigate the role of potentially functional polymorphisms within four ABC transporters' genes, namely ABCB1 (e12/C1236T, e21/G2677T/A, e26/C3435T), ABCC1 (5'FR/G-260C), ABCC2 (e1/C-24T, e10/G1249A, e25/G3542T), and ABCG2 (e2/G34A, i9/T-357C, e5/C421A) in susceptibility to orofacial clefting. In the family based study, 150 nuclear families of single affected offspring with oral clefts participated from Singapore and Taiwan. The case-control study consisted of 128 Chinese oral cleft children recruited in the family based study and controls were cord blood DNA samples from 189 healthy Chinese mothers. Extracted genomic DNAs from blood samples were genotyped for target SNPs. An extended transmission disequilibrium analysis on the families' genotype data revealed that only SNPs within the ABCB1 gene (e12/1236, e21/2677, and e26/3435), but not SNPs in other ABC genes were significantly associated with oral clefting (P<0.05). This finding was interestingly validated by the case-control study using Fisher's exact test.
URI: http://scholarbank.nus.edu.sg/handle/10635/17630
Appears in Collections:Master's Theses (Open)

Show full item record
Files in This Item:
File Description SizeFormatAccess SettingsVersion 
OmoumiA.pdf1.36 MBAdobe PDF

OPEN

NoneView/Download

Page view(s)

312
checked on Dec 18, 2017

Download(s)

450
checked on Dec 18, 2017

Google ScholarTM

Check


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.