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目的对1例疑似G6PD缺乏症合并21-三体综合征患儿进行遗传学诊断并进行家系分析。方法 (1)外周血核型分析;(2)SNP-array检测;(3)目标区域捕获后高通量测序检测G6PD基因突变;(4)PCR+Sanger测序进行家系共分离分析。结果 (1)患儿外周血染色体核型分析的结果:46,XY,+21。SNP-array检测的结果:arr 21q11.2q22.3(15,006,457-48,097,372)x3;(2)患儿G6PD基因存在c.1466G>T(p.Arg489Leu)纯合突变;(3)患儿母亲为G6PD基因c.1466G>T(p.Arg489Leu)杂合突变携带者。结论某些染色体病可能合并单基因遗传病,故应注重遗传病诊断的全面性;基因突变的检出可为产前诊断或植入前遗传学诊断提供依据。
Objective To carry out genetic diagnosis and pedigree analysis on a case of suspected G6PD deficiency combined with trisomy 21 in children. Methods (1) Analysis of peripheral blood karyotype; (2) SNP-array detection; (3) Detection of G6PD gene mutation by high-throughput sequencing after target region capture; (4) PCR-Sanger sequencing for family segregation analysis. Results (1) Results of chromosome karyotype analysis in children with peripheral blood: 46, XY, +21. SNP-array detection results: arr 21q11.2q22.3 (15,006,457-48,097,372) x3; (2) there is a homozygous mutation of c.1466G> T (p.Arg489Leu) in G6PD gene of children; (3) the mothers of children with G6PD Gene c.1466G> T (p.Arg489Leu) heterozygous mutation carriers. Conclusion Some chromosomal diseases may be associated with single-gene inherited diseases, so we should pay attention to the comprehensive diagnosis of genetic diseases. The detection of gene mutations can provide evidence for prenatal diagnosis or preimplantation genetic diagnosis.