蒙古族人群中触珠蛋白多态性：两种基因分型方法的比较
Haptoglobin polymorphism in Mongolian population: comparison of the two genotyping methods.
作者信息
Nakamura Hitomi, Soejima Mikiko, Munkhtulga Lkhagvasuren, Iwamoto Sadahiko, Koda Yoshiro
机构信息
Department of Forensic Medicine and Human Genetics, Kurume University School of Medicine, Kurume, Fukuoka, Japan.
出版信息
Clin Chim Acta. 2009 Oct;408(1-2):110-3. doi: 10.1016/j.cca.2009.08.001. Epub 2009 Aug 12.
BACKGROUND
Haptoglobin (Hp) polymorphisms have been suggested to be associated with many pathological conditions including cardiovascular diseases, infectious diseases, and type 2 diabetes.
METHODS
We examined the association between HP genotypes and type 2 diabetes or anthropometric and clinical features in 946 Mongolians. HP genotypes were determined by two methods, TaqMan-based real-time PCR and conventional PCR. Hp phenotyping was also performed by polyacrylamide gel electrophoresis and peroxidase staining in a few selected samples.
RESULTS
The 2 HP genotyping methods showed consistent results in 943 of 946 samples. Three samples that showed different results in the 2 PCR methods were determined to be heterozygous for the Hp Johnson allele by phenotyping. We did not find any association between HP genotypes and type 2 diabetes or the anthropometric and clinical features examined in the population studied.
CONCLUSIONS
TaqMan-based HP genotyping is reliable and will be useful for high-throughput association studies. Further studies of large numbers of subjects and functional differences in Hp types are needed.
背景
有人提出，触珠蛋白（Hp）多态性与包括心血管疾病、传染病和2型糖尿病在内的许多病理状况有关。
方法
我们在946名蒙古族人中研究了Hp基因型与2型糖尿病或人体测量及临床特征之间的关联。采用两种方法确定Hp基因型，即基于TaqMan的实时聚合酶链反应（PCR）和传统PCR。还对少数选定样本通过聚丙烯酰胺凝胶电泳和过氧化物酶染色进行Hp表型分析。
结果
在946个样本中的943个样本中，两种Hp基因分型方法结果一致。通过表型分析确定，在两种PCR方法中结果不同的3个样本为Hp约翰逊等位基因杂合子。我们未发现Hp基因型与所研究人群中的2型糖尿病或人体测量及临床特征之间存在任何关联。
结论
基于TaqMan的Hp基因分型可靠，将有助于高通量关联研究。需要对大量受试者以及Hp类型的功能差异进行进一步研究。
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