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基因型频率及利用单核苷酸多态性通过聚合酶链反应检测信息性等位基因

Genotype frequency and use of single nucleotide polymorphisms for detection of informative allele by polymerase chain reaction.

作者信息

Nayyar Ayesha, Ahmed Suhaib

机构信息

Dr. Ayesha Nayyar, M.Phil. Department of Pathology, Islamic International Medical College, Riphah International University, Islamabad, Pakistan.

Prof. Dr. Suhaib Ahmed, FCPS, PhD, Department of Pathology, Islamic International Medical College, Riphah International University, Islamabad, Pakistan.

出版信息

Pak J Med Sci. 2020 Nov-Dec;36(7):1567-1571. doi: 10.12669/pjms.36.7.2998.

DOI:10.12669/pjms.36.7.2998
PMID:33235576
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7674877/
Abstract

OBJECTIVE

To determine genotype frequency of biallelic single nucleotide polymorphisms and its use in detection of informative allele in donor/recipient pairs (sibling pairs) having undergone haematopoietic stem cell transplantation with various haematological disorders using a PCR based method.

METHODS

This descriptive study was conducted at GRC Lab Rawalpindi from Jan 2018- Oct 2019.A total of twenty donor/ recipient pairs (sibling pairs) were studied for genotype frequency and informativeness of single nucleotide polymorphisms. Genomic DNA was extracted from the peripheral blood and amplification of single nucleotide polymorphisms was done by PCR based method. The amplified DNA was seen by electrophoresis on 6% polyacrylamide gel.

RESULTS

A sharp band of DNA on the polyacrylamide gel indicated a positive reaction. At least two or more informative SNP markers were found in every sibling pair.

CONCLUSION

Our results demonstrate that PCR amplification of polyacrylamide gel electrophoresis using single nucleotide polymorphism has allowed the successful screening and detection of informative allele in all the donor/recipient pairs. (Sibling pairs). This PCR based assay using SNPs appears to be a quick, simple, reliable and technically feasible method for a use in a Pakistani setting.

摘要

目的

采用基于聚合酶链反应（PCR）的方法，确定双等位基因单核苷酸多态性的基因型频率及其在检测患有各种血液系统疾病并接受造血干细胞移植的供体/受体对（同胞对）中信息性等位基因的应用。

方法

本描述性研究于2018年1月至2019年10月在拉瓦尔品第的GRC实验室进行。共对20对供体/受体对（同胞对）进行了单核苷酸多态性的基因型频率和信息性研究。从外周血中提取基因组DNA，并采用基于PCR的方法对单核苷酸多态性进行扩增。扩增后的DNA在6%聚丙烯酰胺凝胶上进行电泳观察。

结果

聚丙烯酰胺凝胶上出现清晰的DNA条带表明反应呈阳性。在每对同胞对中至少发现了两个或更多的信息性单核苷酸多态性标记。

结论

我们的结果表明，利用单核苷酸多态性进行聚丙烯酰胺凝胶电泳的PCR扩增，已成功筛选并检测出所有供体/受体对（同胞对）中的信息性等位基因。这种基于PCR的单核苷酸多态性检测方法似乎是一种快速、简单、可靠且在技术上可行的方法，可用于巴基斯坦的实际情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5686/7674877/fac741672023/PJMS-36-1567-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5686/7674877/fac741672023/PJMS-36-1567-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5686/7674877/fac741672023/PJMS-36-1567-g001.jpg

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