Chinese Journal of Tissue Engineering Research ›› 2017, Vol. 21 ›› Issue (20): 3208-3215.doi: 10.3969/j.issn.2095-4344.2017.20.016
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Wang Song-xing1, Yang Hui2, He Liu-mei1, Hong Wen-xu1, Zou Hong-yan1, Xu Yun-ping1
Revised:
2017-05-18
Online:
2017-07-18
Published:
2017-07-28
Contact:
Zou Hong-yan, Chief technician, Institute of Transfusion Medicine of Shenzhen Blood Center, Shenzhen 518035, Guangdong Povince, China;
Xu Yun-ping, M.D., Associate chief technician, Institute of Transfusion Medicine of Shenzhen Blood Center, Shenzhen 518035, Guangdong Povince, China
About author:
Wang Song-xing, Technician-in-charge, Institute of Transfusion Medicine of Shenzhen Blood Center, Shenzhen 518035, Guangdong Povince, China
Supported by:
the Medical Research Foundation of Guangdong Province, No. A2016222; the Special Foundation for Strategic Emerging Industries Development in Shenzhen, No. JSGG20160328103642937; the Science and Technology Research and Development Foundation of Shenzhen, No. JCYJ20160427172335974; the Research Project of Shenzhen Health and Family Planning System, No. 201401077
CLC Number:
Wang Song-xing, Yang Hui, He Liu-mei, Hong Wen-xu, Zou Hong-yan, Xu Yun-ping. Accurate determination of HLA ambiguous results based on group-specific haploid full-length sequencing[J]. Chinese Journal of Tissue Engineering Research, 2017, 21(20): 3208-3215.
2.1 HLA组特异性单倍型全长测序分型方法解决A位点模棱两可结果 标本1低分辨试剂盒扩增第2,3,4外显子得出的结果为A*02∶03杂合A*11∶01(图1),但有1个不匹配位点,疑似新基因。根据HLA全长测序分型试剂盒(组特异性单倍型PCR-SBT法)A位点测序引物信息表(表1)用MSA102扩增A*02, MSA111扩增A*11,扩增产物电泳图分别如图2中第1、2泳道所示,然后进行测序分析得出分型结果为A*02∶03∶01杂合新等位基因,该基因与A*11∶01∶01∶01全长比较,在NT817由C发生突变为T(图3),由于其发生在第三外显子上,故引起第125位密码子由GCC变为GTC,从而引起其编码的氨基酸由脯氨酸变成缬氨酸。 2.2 HLA组特异性单倍型全长测序分型方法解决C位点模棱两可结果 标本2低分辨试剂盒扩增第2,3,4外显子得出的结果为C*08∶01杂合C*07∶373(图4),但C*07∶373在中国汉族人群中是一个相对罕见的等位基因;而图4中右侧黄色背景结果C*07∶02杂合C*08∶01为常见等位基因,虽有一个错配碱基,疑似新基因。根据HLA全长测序分型试剂盒(组特异性单倍型PCR-SBT法)C位点测序引物信息表(表2)用MSC306扩增C*08, MSC308扩增C*07,扩增产物电泳图分别如图2中第3、4泳道所示,然后进行测序分析得出分型结果为;C*07∶02∶01∶01杂合新等位基因,该基因与C*08∶01∶01比较,在NT879由A发生突变为G(图5),由于其发生在第三外显子上,故引起第144位密码子由CAG变为CGG,从而引起其编码的氨基酸由谷氨酰胺变成精氨酸。"
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