[一名具有德尔血型表型献血者的基因分析]
[ Gene Analysis of A Blood Donor with Del Phenotype].
作者信息
Wang Zhi-Jiang, Peng Mo-Zhen, Zhang Zhi-Hui, Li Qian, Li Qiu-Jin, Su Pin-Can
机构信息
Yunnan Kunming Blood Center, Kunming 650106, Yunnan Province, China.
Yunnan Kunming Blood Center, Kunming 650106, Yunnan Province, China.E-mail：
出版信息
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2023 Jun;31(3):843-849. doi: 10.19746/j.cnki.issn.1009-2137.2023.03.033.
OBJECTIVE
To analyze the genotype of a blood donor with Del phenotype in Yunnan.
METHODS
Rh serological phenotype was identified. gene was detected by PCR-SSP typing, and its 10 exons were sequenced. Exon 9 was amplified for sequencing and analysis. zygosity was detected.
RESULTS
The Rh phenotype of this specimen was CcDee. Genomic DNA exhibited a 1 003 bp deletion spanning from intron 8, across exon 9 into intron 9. The deletion breakpoints occurred between two 7-bp short tandem repeat sequences. There was no variation in the sequences of the remaining exons. The Rh hybridization box test showed that there was one negative allele.
CONCLUSION
This specimen is Del type caused by deletion of exon 9.
目的
分析云南一名具有Del表型献血者的基因型。
方法
鉴定Rh血清学表型，采用聚合酶链反应-序列特异性引物（PCR-SSP）分型检测基因，并对其10个外显子进行测序。扩增外显子9进行测序和分析，检测纯合性。
结果
该标本的Rh表型为CcDee。基因组DNA显示存在一个1003 bp的缺失，从内含子8跨越外显子9延伸至内含子9。缺失断点位于两个7 bp短串联重复序列之间。其余外显子序列无变异。Rh杂交盒试验显示存在一个阴性等位基因。
结论
该标本为外显子9缺失导致的Del型。
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