Association study on microsatellite polymorphisms of MSX1 gene and nonsyndromic cleft lip and palate.
- Author:
Ping-an WU
1
;
Yun-liang LI
;
Guo-zheng FAN
;
Kai WANG
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; China; ethnology; Cleft Lip; genetics; Cleft Palate; genetics; Ethnic Groups; genetics; Gene Frequency; Genetic Markers; genetics; Genetic Predisposition to Disease; Genotype; Humans; MSX1 Transcription Factor; genetics; Microsatellite Repeats; genetics; Polymorphism, Genetic
- From: Chinese Journal of Medical Genetics 2007;24(3):325-327
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSOne 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.
RESULTSThe 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).
CONCLUSIONThe microsatellite DNA marker CA repeat in MSX1 is a good genetic marker. MSX1 gene is significantly associated with NSCLP in Hunan Hans.
