[Investigation of single nucleotide polymorphisms in the promoter region of mannan-binding lectin gene in Bais, Uars and Lahus ethnics from China]

Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2005 Jan;21(1):110-3.
[Article in Chinese]

Abstract

Aim: To investigate the single nucleotide polymorphisms(SNP) in the promoter region of mannan-binding lectin (MBL) gene in Bais, Uars and Lahus ethnics.

Methods: 71, 73 and 94 blood samples were obtained from Bais, Uars and Lahus subjects, respectively from Yunnan province. Genomic DNA was isolated from leucocytes. Polymorphism alleles -550(G/C, named H/L alleles), -220(G/C, X/Y alleles) and +4(C/T, P/Q alleles) in the promoter region of MBL gene were detected by sequence-specific primer-PCR and molecular beacon real-time PCR, and the frequencies of haplotypes and genotypes were analyzed.

Results: The frequencies of genotypes in Bais, Uars and Lahus ethnics were as follows: LYP/LYP 4(5.6%), 4(5.5%)and 2(2.1%); HYP/LYQ 6(8.5%), 11(15.1%) and 12(12.8%); LYP/LYQ 21(29.6%), 14(19.2%) and 51(54.3%); LXP/LXP 1(1.4%), 2(2.7%)and 0,LYQ/LYQ 10(14.1%); 14(19.2%), 7(7.4%), LXP/LYQ 10(14.1%), 13(17.8%) and 15(16.0%); HYP/LYP 4(5.6%), 3(4.1%) and 4(4.3%); HYP/LXP 3(4.2%), 1(1.4%) and 0; HYP/HYP 12(16.9%), 11(15.1%) and 3(3.2%).

Conclusion: The distribution of alleles L/H is statistically different among Uars, Bais and Larhus(P<0.01), while X/Y and P/Q are not statistically significant(P>0.05). All studied haplotypes and genotypes are statistically different among the 3 ethnics(P<0.01). Genotypes LYP/LYQ and LXP/LYQ are common in all the 3 ethnics.

MeSH terms

  • Asian People / genetics*
  • Ethnicity / genetics*
  • Female
  • Gene Frequency
  • Haplotypes
  • Humans
  • Male
  • Mannose-Binding Lectin / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic / genetics*

Substances

  • Mannose-Binding Lectin