摘要
目的 对一个指(趾)畸形家系进行基因突变分析,探讨其遗传学病因.方法 收集该家系的临床资料,采集家系成员的外周血样,提取基因组DNA,应用PCR产物直接测序法对极化活性区调节序列ZRS进行分析.结果 在该家系3代13人中,共有PPD患者4例,表现为不同程度的肢端畸形,家系中女性患者存在三指节拇指及并指多指,而男性患者存在并指多指,无三指节拇指.4例患者中仅有一例患者存在足部受累.系谱中每一代均有患者,男女均可患病.家系中所有患者ZRS上均存在105位置C>G改变,2名正常家庭成员未见该突变.结论 该指(趾)畸形为常染色体显性遗传病,家系患者间存在明显的表型差异.ZRS上105位置C>G的突变是该家系的致病原因.
Objective To detect potential mutation in a Chinese pedigree affected with congenital limb malformations.Methods Clinical data was collected.Genomic DNA was extracted from peripheral blood samples of family members.The zone of polarizing activity regulatory sequence(ZRS)were amplified by PCR and subjected to direct sequencing.Results Among the 13 individuals in this pedigree,there were 4 PPD patients,who were characterized by varying degrees of deformity.The female patients suffered triphalangeal thumb and preaxial polydactyly,while the male patients only had preaxial polydactyly.Only one patient had foot involvement.TA heterogeneous mutations was discovered in the ZRS(105C>G)in all patients,the same mutation was not detected in 2 healthy family members.Conclusion The inheritance pattern of PPD was autosomal dominant inheritance.There was a significant variability of symptoms among family patients.The heterozygous mutation of the ZRS(105C>G)probably underlie the disease.
作者
蔡凤英
马继军
潘蕊
王朝
李维超
蔡春泉
林书祥
舒剑波
Cai Fengying;Ma Jijun;PanRui;Wang Chao;Li Weichao;Cai Chunquan;Lin Shuxiang;Shu Jianbo(Department of Physiology,Tianjin Medical College,Tianjin 300222,China;Department of Immunology,Tianjin Children’s Hospital,Tianjin 300134,China;Tianjin Pediatric Research Institute,Tianjin Children’sHospital,Tianjin 300134,China;Department of Neurosurgery,Tianjin Children'sHospital,Tianjin 300134,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第9期890-892,共3页
Chinese Journal of Medical Genetics
基金
天津市卫生局基金面上项目(2013KY11,2013KZ037)
天津市卫生行业重点攻关项目(16KG166)
天津市自然科学基金青年项目(16JCQNJC11900).
作者简介
通信作者:舒剑波,Email:shjb1981@sina.com
