CAJ | 학술논문

目的：探讨生长障碍患儿的分子遗传学基础。方法2013年1月至12月采集56例生长障碍患儿的外周血并提取DNA，进行单核苷酸多态性基因芯片(SNP-array)检测。结果56例患儿中12例(21.4%)有致病性拷贝数异常，性染色体异常6例，常染色体异常6例；4例(7.1%)有常规染色体核型分析无法检出的致病性微缺失或重复片段，其大小<2.5 Mb。结论 SNP-array技术可作为生长障碍患儿遗传学诊断的有效方法。
목적：탐토생장장애환인적분자유전학기출。방법2013년1월지12월채집56례생장장애환인적외주혈병제취DNA，진행단핵감산다태성기인심편(SNP-array)검측。결과56례환인중12례(21.4%)유치병성고패수이상，성염색체이상6례，상염색체이상6례；4례(7.1%)유상규염색체핵형분석무법검출적치병성미결실혹중복편단，기대소<2.5 Mb。결론 SNP-array기술가작위생장장애환인유전학진단적유효방법。
Objective To investigate the genetic basis of the children with growth retardation. Methods From January to October 2013, the 56 patients with growth retardation were enrolled in this study. Genomic DNA was extracted from peripheral blood and was analyzed with gene array chips. Results Abnormalities were found in 12 patients (6 cases of sex chromosome abnormalities and 6 cases of autosomal aberration) and the detection rate was 21.4%. Four patients had the copy-number variations of smaller than 2.5Mb in size which could not be found by karyotyping analysis. Conclusions SNP-array gene chip could be used in the genetic diagnosis of growth retardation.