单核苷酸多态性微阵列在一例松软婴儿综合征中检出Xq13．1重复  

Identification of a novel duplication of Xq13.1 in a case with floppy infant syndrome with SNP-array

作　　者：沙莎 陈新娜[2] 刘敏[3] 周爱萍 孙亚楠 庞春荣 张旭 Sha Sha1 , Chen Xinna2 , Liu Min3, Zhou Aiping1, Sun Yanan1, Pang Cunrong4, Zhang Xu5(1. Medical Department, Xizang Minzu University, Xianyang, Shaanxi 712082, China ;2. Department of Obstetrics and Gynecology, Reproductive Medical Center, Peking University Third Affiliation Hospital, Beijing 100191, China ;3. Department of Neurology, the Affiliated Hospital of Qingdao Medical College, Qingdao, Shandong 266003, China ; 4.Department of Gynecology the Affiliation Hospital of Southwest Medical University, Luzhou, Sichuan 646000, China;5. Beijing Guang He Biao Guan Medical Technology, Beijing 100001, Chin)

机构地区：[1]西藏民族大学医学部,陕西咸阳712082 [2]北京大学第三附属医院生殖中心,100191 [3]山东省青岛医学院附属医院神经内科,266003 [4]西南医科大学附属医院产科产前诊断中心,四川泸州646000 [5]北京光和表观医学检验所,100001

出　　处：《中华医学遗传学杂志》2018年第5期715-718,共4页Chinese Journal of Medical Genetics

基　　金：西藏自治区自然科学基金（Z2012A36G23/00）;西藏民族大学重大项目培育计划（12myZP03）;西藏民族大学青年学人培育计划（15MYQP06）

摘　　要：目的探讨1例松软婴儿综合征（floppy infant syndrome，FIS）家系的侯选致病基因。方法用单核苷酸多态性微阵列（single nueleotide polymorphism array，SNP-array）芯片对患儿进行全基因组拷贝数扫描，之后用PCR和变性高效液相色谱（denaturing high performance liquid chromatography，DHPLC）在患儿及其家系成员中验证芯片检测的结果。结果患儿的检测结果为arr[hg19]Xq13．1：67987646-73805828，即存在5．818182Mb的大片段重复，该区域共涉及66个已知基因。DHPLC检测证实患儿重复区内的8个基因（PJA1、IGBP1、KIF4A、DLG3、TAF1、HDAC8、PHKA1和SLC16A2）均存在重复，其母亲和外祖母仅一条X染色体携带上述重复，其姨妈则未携带上述重复。结论Xq13．1区的大片段重复可能是患儿的遗传学病因。SNP-array检测具有通量高、分辨率高、自动化操作的优势，可作为不明原因发育迟缓、智力低下、自闭症、多发畸形及FIS的首选检测方法。Objective To explore the candidate disease causing gene for a case with floppy infant syndrome （FIS）. Methods Single nucleotide polymorphism array （SNP array） was used for analyzing the whole genome copy number mutations in the proband. Multiple PCR combined with denaturing high performance liquid chromatography （DHPLC） was employed to verify the suspected mutations in the proband and his family members. Results A large duplication arr [hg19] Xql3.1 ： 67 987 646 - 73 805 828, which spans approximately 5. 818182 Mb and encompasses 66 known genes, was identified in the proband. The multiple PCR-DHPLC assay confirmed duplication of HDACS, PHKA1, TAF1, DLG3, KIF4A, IGBP1, PJA1 and SLC16A2 genes in the proband. His mother and grandmother both had duplication of the above genes in one X chromosome, but his aunt had not. Conclusion The large Xq13. 1 duplication identified by the SNP array probably underlies the FIS in this family. For its high-throughput, high resolution and capacity of automation, SNP array has provided a first line method for the genetic testing for infants featuring developmental delay with unknown reason, mental retardation, autism, multiple malformation and FIS.

关 键 词：单核苷酸多态性微阵列 变性高效液相色谱 松软婴儿综合征 Xq13.1重复 

分 类 号：R725.9[医药卫生—儿科] R440[医药卫生—临床医学]