单核苷酸多态性微阵列芯片分析检测1例6号染色体父源性单亲二体新生儿短暂性糖尿病

Single nucleotide polymorphism array in the detection of a transient diabetic neonate with paternal uniparental disomyorigin on chromosome 6

目的 对1例短暂性糖尿病新生儿进行单核苷酸多态性微阵列芯片分析,探讨其6号染色体变异情况。方法采集1例短暂性糖尿病新生儿(先证者)及其父母外周血,提取基因组DNA,对6号染色体进行单核苷酸多态性微阵列芯片分析。应用UPD-Tool软件分析先证者6号染色体的纯合状态及与父母基因型相同的比例,进行亲缘鉴定和6号染色体父源性单亲二体来源区分。结果 先证者父母6号染色体均未发生变异,先证者为arr(6)X2 hmz pat;UPD-Tool分析结果提示,先证者6号染色体为父源性单亲二体。结论 6号染色体父源性单亲二体是该例新生儿短暂性糖尿病的致病原因。

Objective To perform single nucleotide polymorphism array in a neonate with transient diabetes mellitus and to investigate the variation of chromosome 6. Methods The peripheral blood was collected from a transient diabetic neonate(the proband) and her parents. The genomic DNA was extracted, and chromosome 6 was analyzed by single nucleotide polymorphism array. The homozygous status of the proband’s chromosome 6 and the proportion of the same genotype with the parents were analyzed by using the UPD-Tool software for genetic identification and source differentiation. Results The parents of the proband were found no chromosomal variation, and the proband was found arr(6)X2 hmz pat. The UPD-Tool analysis indicated that the paternity of chromosome 6 was UPD(modified). Conclusion Paternal uniparental disomyorigin on chromosome 6 is the cause of transient diabetes in this neonate.