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


CONCLUSIONS
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.
Lu
Cheng-Wei
CW
Department of Immunology, Southern Medical University, Guangzhou 510515, China.
Ge
Zheng-Ming
ZM
Li
Jiang-Chuan
JC
Ma
Li
L
Chen
Zheng-Liang
ZL
D044466:Asian People / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*
D037601:Mannose-Binding Lectin