[Association study on microsatellite polymorphisms of MSX1 gene and nonsyndromic cleft lip and palate].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi

Department of Stomatology, Xiangya Second Hospital, Central South University, Changsha, Hunan, 410011 PR China.

Published: June 2007

AI Article Synopsis

  • The study looks at a gene called MSX1 to see if it is linked to cleft lip and palate in people from Hunan.
  • Researchers used a specific DNA marker and analyzed samples from 129 patients with cleft issues and 108 healthy people.
  • They found that certain variations of the MSX1 gene were more common in those with cleft lip and palate, suggesting it is connected to the condition.

Article Abstract

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).

Conclusion: The microsatellite DNA marker CA repeat in MSX1 is a good genetic marker. MSX1 gene is significantly associated with NSCLP in Hunan Hans.

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