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印度部分人群ABO血型的分子基因分型

Molecular genotyping of ABO blood groups in some population groups from India.

作者信息

Ray Sabita, Gorakshakar Ajit C, Vasantha K, Nadkarni Anita, Italia Yazdi, Ghosh Kanjaksha

机构信息

National Institute of Immunohaematology (ICMR), Mumbai, India.

出版信息

Indian J Med Res. 2014 Jan;139(1):105-11.

PMID:24604045
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3994725/
Abstract

BACKGROUND & OBJECTIVES: Indian population is characterized by the presence of various castes and tribal groups. Various genetic polymorphisms have been used to differentiate among these groups. Amongst these, the ABO blood group system has been extensively studied. There is no information on molecular genotyping of ABO blood groups from India. Therefore, the main objective of this study was to characterize the common A, B and O alleles by molecular analysis in some Indian population groups.

METHODS

One hundred samples from the mixed population from Mumbai, 101 samples from the Dhodia tribe and 100 samples from the Parsi community were included in this study. Initially, the samples were phenotyped by standard serologic techniques. PCR followed by single strand conformational polymorphsim (SSCP) was used for molecular ABO genotyping. Samples showing atypical SSCP patterns were further analysed by DNA sequencing to characterize rare alleles.

RESULTS

Seven common ABO alleles with 19 different genotypes were found in the mixed population. The Dhodias showed 12 different ABO genotypes and the Parsis revealed 15 different ABO genotypes with six common ABO alleles identified in each of them. Two rare alleles were also identified.

INTERPRETATION & CONCLUSIONS: This study reports the distribution of molecular genotypes of ABO alleles among some population groups from India. Considering the extremely heterogeneous nature of the Indian population, in terms of various genotype markers like blood groups, red cell enzymes, etc., many more ABO alleles are likely to be encountered.

摘要

背景与目的

印度人口的特点是存在各种种姓和部落群体。多种基因多态性已被用于区分这些群体。其中，ABO血型系统已得到广泛研究。目前尚无来自印度的ABO血型分子基因分型的相关信息。因此，本研究的主要目的是通过分子分析对一些印度人群体中的常见A、B和O等位基因进行特征描述。

方法

本研究纳入了来自孟买混合人群的100份样本、来自多迪亚部落的101份样本和来自帕西社区的100份样本。首先，通过标准血清学技术对样本进行表型分析。采用聚合酶链反应（PCR）继之以单链构象多态性（SSCP）进行ABO血型分子基因分型。对显示非典型SSCP模式的样本进一步进行DNA测序，以鉴定罕见等位基因。

结果

在混合人群中发现了7种常见的ABO等位基因，具有19种不同的基因型。多迪亚人显示出12种不同的ABO基因型，帕西人显示出15种不同的ABO基因型，且在他们各自中均鉴定出6种常见的ABO等位基因。还鉴定出了2种罕见等位基因。

解读与结论

本研究报告了印度一些人群中ABO等位基因分子基因型的分布情况。鉴于印度人口在血型、红细胞酶等各种基因型标记方面具有极其异质性的特点，可能会发现更多的ABO等位基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e55a/3994725/ca66ae4408ee/IJMR-139-105-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e55a/3994725/ca66ae4408ee/IJMR-139-105-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e55a/3994725/ca66ae4408ee/IJMR-139-105-g001.jpg

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印度O血型的异质性：透过分子生物学之窗窥视
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