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


METHODS
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.


RESULTS
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).


CONCLUSIONS
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.
Wu
Ping-An
PA
Department of Stomatology, The Second Xiangya Hospital, Central South University, Changsha 410011, China. wpan_mail@hotmail.com
Li
Yun-Liang
YL
Wu
Han-Jiang
HJ
Wang
Kai
K
Fan
Guo-Zheng
GZ
D044466:Asian People; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D016015:Logistic Models; D051957:MSX1 Transcription Factor / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree
D005819:Genetic Markers; D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human