Transmission disequilibrium test for nonsyndromic cleft lip and palate and segment homeobox gene-1 gene.
- Author:
Ping-An WU
1
;
Yun-Liang LI
;
Han-Jiang WU
;
Kai WANG
;
Guo-Zheng FAN
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; Cleft Lip; genetics; Cleft Palate; genetics; Genetic Markers; genetics; Genotype; Humans; Linkage Disequilibrium; Logistic Models; MSX1 Transcription Factor; genetics; Microsatellite Repeats; genetics; Pedigree
- From: Chinese Journal of Stomatology 2007;42(9):561-563
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the relationship between muscle segment homeobox gene-1 (MSX1) and the genetic susceptibility of nonsyndromic cleft lip and palate (NSCLP) in Hunan Hans.
METHODSOne microsatellite DNA marker CA repeat in MSX1 intron region was used as genetic marker. The genotypes of 387 members in 129 NSCLP nuclear family trios were analyzed by polymerase chain reaction (PCR) and denaturing polyacrylamide gel electrophoresis. Then transmission disequilibrium test (TDT) and Logistic regression analysis were used to conduct association analysis.
RESULTSTDT analysis confirmed that CA4 allele in CL/P and CPO groups preferentially transmitted to the affected offspring (P = 0.018, P = 0.041). Logistic regression analysis indicated that the recessive model of inheritance was supported, and CA4 itself or CA4 acting as a marker for a disease allele or haplotype was inherited in a recessive fashion (P = 0.009).
CONCLUSIONSMSX1 gene is associated with NSCLP, and MSX1 gene may be directly involved either in the etiology of NSCLP or in linkage disequilibrium with disease-predisposing sites.
