Int J Stomatol

Inter J Stomatol ›› 2015, Vol. 42 ›› Issue (5): 510-513.doi: 10.7518/gjkq.2015.05.004

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The research based on next generation sequencing of the association between muscle segment homeobox 1 gene and non-syndromic cleft lip with or without cleft palate

Julaiti Tuerxun, Gu Li, Ainiwaer Mijiti, Adili Moming   

  1. Dept. of Maxillofacial Surgery, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, China
  • Received:2015-04-05 Revised:2015-06-09 Online:2015-09-01 Published:2015-09-01

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Abstract:

Objective To investigate the relationship between muscle segment homeobox(MSX) 1 and non-syndromic cleft lip with and without cleft palate(NSCL/P) in Xinjiang Uyghur population. Methods One hundred Uyghur NSCL/P patients from Xinjiang were included as the case gruop and 60 healthy individuals as the control group. Next generation sequencing was used to detect 500 bp around gene, 5’ untranslated region(UTR) and coding region of MSX 1. Results Five single nucleotide polymorphisms were found: rs36059701, rs80120240, rs1042484, rs34165410, rs8670. The genotype distribution and the frequency of alleles were no significant difference in case group and control group(P>0.05) and significant evidence of linkage disequilibrium were not found in the 5 loci(r2<0.8). Conclusion The association between MSX1 gene polymorphisms and NSCL/P in Xinjiang Uygur people was not observed.

Key words: non-syndromic cleft lip with or without cleft palate； muscle segment homeobox 1, single nucleotide polymorphism


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