1例疑似X连锁隐性遗传病女性患儿家系遗传学分析  

Genetic analysis of a female child family with suspected X-linked recessive genetic disease

作　　者：王丹虹 逯军[1] WANG Dan-hong;LU Jun(Afiliated Haikou Hospital of Xiangya Medical College,Central South University,Haikou,Hainan 570208,China)

机构地区：[1]中南大学湘雅医学院附属海口医院,海南海口570208

出　　处：《中国热带医学》2023年第2期210-214,共5页China Tropical Medicine

摘　　要：目的对1例存在染色体Xq28杂合缺失,疑似X连锁隐性遗传病的女性患儿家系进行遗传学分析以判断其发病及预后。方法女性患儿,20 d,因“皮肤黄疸20 d,针刺部位难止血”入院,母孕晚期羊水穿刺低深度全基因组测定提示甲型血友病和X连锁智力障碍72型相关拷贝数缺失。为进一步确诊及明确预后,采集患儿及其父母外周血行基因检测,并进行染色体失活检测及遗传学分析。结果患儿染色体Xq28存在约439.4 kb的拷贝数杂合缺失变异,是ClinGen数据库收录的明确功能缺失致病编码基因。染色体失活检测显示患儿父源X染色体为极度失活偏移,单倍型分析提示受检者正常染色体遗传自母亲,父源X染色体上存在杂合缺失,故推断患儿不发病或症状轻微。结论携带X连锁隐性遗传疾病致病性变异的女性患者有必要进行X染色体失活检测数据分析,判断其发病的可能性。Objective Genetic analysis was performed on a female child with chromosome Xq28 heterozygous deletion and suspected X-linked recessive disease to determine the morbidity and prognosis.Methods A female child was admitted to the hospital on day 20 because of"jaundice for 20 days and difficulty in stopping bleeding at acupuncture sites".Low depth whole genome test of amniocentesis in late pregnancy suggested missing copy number of hemophilia A and X-linked mental retardation type 72.In order to further confirm the diagnosis and prognosis,peripheral blood of the children and their parents were collected for gene testing,chromosome inactivation test and genetic analysis.Results Chromosome Xq28 of the child had 439.4 kb copy number heterozygous deletion variation,which was a clear disease-coding gene for functional loss included in ClinGen database.Chromosome inactivation test showed that the paternal X chromosome of the child was extremely inactivated.Haplotype analysis suggested that the normal chromosome of the subject was inherited from the mother,and there was heterozygous deletion on the paternal X chromosome,so it was inferred that the child will not develop disease or just have mild symptoms.Conclusion It is necessary to analyze the X chromosome inactivation test for female patients with the pathogenic variation of X-linked recessive genetic disease to determine the possibility of the disease.

关 键 词：血友病 X连锁隐性遗传病 染色体偏移失活 

分 类 号：R596[医药卫生—内科学]