Single nucleotide polymorphisms of growth hormone receptor gene in Chinese Han ethnic population / 中华口腔医学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the distribution of single nucleotide polymorphisms (SNP) of growth hormone receptor (GHR) gene in Chinese Han ethnic population.</p><p><b>METHODS</b>The sample of 106 unrelated healthy Chinese Hans was studied by sequencing exons of the GHR gene to detect SNP.</p><p><b>RESULTS</b>There were 6 SNP spots identified in exon 6 and exon 10. Five of them were found in exon 10, and one in exon 6. There were differences between the allele frequencies of the SNP we found and those in the NCBI database. The highest heterozygosity of the SNP was found at 1630 A > C (I526L), which was 47.6%. The SNP 1483 A > C (P477T), 1735 A > C (P561T) and 1319 G > T (C422F) had polarity change. The SNP 536 A > G in exon 6 from the NCBI database was not detected in this population. The allele distribution of SNP was in good unity with the Hardey-Weinberg equilibrium.</p><p><b>CONCLUSION</b>It is suggested that the SNP of GHR are unevenly distributed and different in different ethnic populations.</p>