A comprehensive survey of a novel RHD838A allele in a proposita family
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- 英文论文题名：A comprehensive survey of a novel RHD838A allele in a proposita family
- 论文作者：Wang Xuedong ; Gu Juan ; Sun Anyuan ; Wang Baolong ; Shao Chaopeng
- 英文论文作者：Wang Xuedong ; Gu Juan ; Sun Anyuan ; Wang Baolong ; Shao Chaopeng ; The Fifth People's Hospital of Wuxi ; Clinical Medical College of Nanjing Medical University ; Wuxi Medical School of Jiangnan University ; Department of Clinical Laboratory Medicine ; The Affiliated Provincial Hospital of Anhui Medical University ; The First Affiliated Hospital of Shenzhen University
- 年：2016
- 作者机构：The Fifth People's Hospital of Wuxi,Clinical Medical College of Nanjing Medical University;Wuxi Medical School of Jiangnan University;Department of Clinical Laboratory Medicine,The Affiliated Provincial Hospital of Anhui Medical University;The First Affiliated Hospital of Shenzhen University;
- 英文论文关键词：Rh blood group ; D antigen ; DEL ; allele ; RHD
- 会议召开时间：2016-11-04
- 会议录名称：第十一届全国免疫学学术大会摘要汇编
- 英文会议录名称：Abstracts of 2016 CSI Congress on Immunology
- 语种：英文
- 分类号：R394
- 学会代码：IGMD
- 会议名称：第十一届全国免疫学学术大会
- 会议地点：中国安徽合肥
- 主办单位：中国免疫学会
- 学会名称：中国免疫学会
- 页数：1
- 文件大小：1289k
- 原文格式：D
- 会议级别：全国
摘要
Background: Previous studies of the Rh blood group system have shown that racial differences exist not only in the genetic background of the RHD gene but also in the frequencies of the RHD allele. A novel allele RHD838 A was found in our previous study by a large-scale investigation The purpose of the present study was to elucidate the molecular characteristics of the novel RHD838 A allele in a proposita family. Methods: To further analyse the inheritance of the RHD838 A allele, a full investigation including family members was undertaken. Rh phenotype was determined by serologic method. A pair of primers specific for RHD838 A was designed, and a sequence specific primer-PCR(PCR-SSP)method was then established to detect the RHD838 A allele. The RHD coding region structures were analysed by sequencing. Furthermore, a PCR-RFLP method was used to determine the RHD zygosity in all family members. Results: The RHD838 A allele existed in the proposita, her mother and maternal grandfather but not in her father, uncle, paternal grandparents and maternal grandmother. The results showed that the RHD838 A allele came from her maternal grandfather and was inherited through three generations. The RHD zygosity test showed the individual carrying the RHD838 A was RHD838A/RHD- heterozygote, which caused the DEL phenotype. Conclusion: For the first time, we demonstrate that the RHD838G>A allele is a genetic allele, rather than the formation of a spontaneous individual gene mutation.
Background: Previous studies of the Rh blood group system have shown that racial differences exist not only in the genetic background of the RHD gene but also in the frequencies of the RHD allele. A novel allele RHD838 A was found in our previous study by a large-scale investigation The purpose of the present study was to elucidate the molecular characteristics of the novel RHD838 A allele in a proposita family. Methods: To further analyse the inheritance of the RHD838 A allele, a full investigation including family members was undertaken. Rh phenotype was determined by serologic method. A pair of primers specific for RHD838 A was designed, and a sequence specific primer-PCR(PCR-SSP)method was then established to detect the RHD838 A allele. The RHD coding region structures were analysed by sequencing. Furthermore, a PCR-RFLP method was used to determine the RHD zygosity in all family members. Results: The RHD838 A allele existed in the proposita, her mother and maternal grandfather but not in her father, uncle, paternal grandparents and maternal grandmother. The results showed that the RHD838 A allele came from her maternal grandfather and was inherited through three generations. The RHD zygosity test showed the individual carrying the RHD838 A was RHD838A/RHD- heterozygote, which caused the DEL phenotype. Conclusion: For the first time, we demonstrate that the RHD838G>A allele is a genetic allele, rather than the formation of a spontaneous individual gene mutation.
Background: Previous studies of the Rh blood group system have shown that racial differences exist not only in the genetic background of the RHD gene but also in the frequencies of the RHD allele. A novel allele RHD838 A was found in our previous study by a large-scale investigation The purpose of the present study was to elucidate the molecular characteristics of the novel RHD838 A allele in a proposita family. Methods: To further analyse the inheritance of the RHD838 A allele, a full investigation including family members was undertaken. Rh phenotype was determined by serologic method. A pair of primers specific for RHD838 A was designed, and a sequence specific primer-PCR(PCR-SSP)method was then established to detect the RHD838 A allele. The RHD coding region structures were analysed by sequencing. Furthermore, a PCR-RFLP method was used to determine the RHD zygosity in all family members. Results: The RHD838 A allele existed in the proposita, her mother and maternal grandfather but not in her father, uncle, paternal grandparents and maternal grandmother. The results showed that the RHD838 A allele came from her maternal grandfather and was inherited through three generations. The RHD zygosity test showed the individual carrying the RHD838 A was RHD838A/RHD- heterozygote, which caused the DEL phenotype. Conclusion: For the first time, we demonstrate that the RHD838G>A allele is a genetic allele, rather than the formation of a spontaneous individual gene mutation.
引文