Article

[Transmission disequilibrium test for nonsyndromic cleft lip and palate and segment homeobox gene-1 gene].

Department of Stomatology, The Second Xiangya Hospital, Central South University, Changsha 410011, China.
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology 10/2007; 42(9):561-3. pp.561-3
Source: PubMed

ABSTRACT To investigate the relationship between muscle segment homeobox gene-1 (MSX1) and the genetic susceptibility of nonsyndromic cleft lip and palate (NSCLP) in Hunan Hans.
One 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.
TDT 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).
MSX1 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.

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Keywords

129 NSCLP nuclear family trios
 
affected offspring
 
CA4 allele
 
conduct association analysis
 
CPO groups preferentially
 
denaturing polyacrylamide gel electrophoresis
 
genetic marker
 
genetic susceptibility
 
Hunan Hans
 
linkage disequilibrium
 
Logistic regression analysis
 
microsatellite DNA marker
 
muscle segment homeobox gene-1
 
nonsyndromic cleft lip
 
palate
 
PCR
 
polymerase chain reaction
 
repeat
 
transmission disequilibrium test
 

Ping-An Wu