[Association study on microsatellite polymorphisms of MSX1 gene and nonsyndromic cleft lip and palate].
OBJECTIVE
To investigate muscle segment homeobox 1 (MSX1) microsatellite marker distribution and the relationship between MSX1 gene 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 markers. The genotypes of 129 patients with NSCLP and 108 controls were analyzed by the techniques of polymerase chain reaction (PCR) and denaturing polyacrylamide gel electrophoresis (PAGE). Then case-control study was used to conduct association analysis.


RESULTS
The allele frequencies of the CA repeat microsatellite DNA in Hunan Han normal population were in good agreement with Hardy-Weinberg equilibrium. The polymorphism information content and heterozygosity of CA repeat microsatellite DNA were 0.50 and 0.50 respectively. The allele CA4 frequency in CL/P and CPO group was significantly higher than that of normal controls (P<0.05). The genotype CA4,4 frequency was significantly higher in CL/P and CPO group than that in normal controls (P<0.05).


CONCLUSIONS
The microsatellite DNA marker CA repeat in MSX1 is a good genetic marker. MSX1 gene is significantly associated with NSCLP in Hunan Hans.
Wu
Ping-an
PA
Department of Stomatology, Xiangya Second Hospital, Central South University, Changsha, Hunan, 410011 PR China. wpan-mail@hotmail.com
Li
Yun-liang
YL
Fan
Guo-zheng
GZ
Wang
Kai
K
D001483:Base Sequence; D002681:China / Q000208:ethnology; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics*; D011110:Polymorphism, Genetic
D005819:Genetic Markers; D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human