目的：对遗传性先天性无虹膜(Hereditary congenital aniridia)家系患者PAX6基因exon 13 C.957-960delCA突变进行检测,为该家系成员产前诊断提供了科学依据.方法：通过高效变性液相色谱(denaturing high performance liquid chromatography,DHPLC)技术检测短串联重复序列(short tandem rep
Turner syndrome (TS) is a heterogenous genetic disorder caused by X-chromosomal structural abnormalities that affects in about 1 of 2500 females.The affected individuals may develop diverse clinical f
目的：Alport综合征(Alport syndrome,AS)是一种遗传性肾病,以血尿,进行性肾功能衰竭,感音神经性耳聋和眼部异常为主要特征,其致病基因是分别编码Ⅳ型胶原α3,α4和α5链的COL4A3,COL4A4和COL4A5基因. Ⅳ型胶原是肾小球基底膜的主要成分,因此上述基因的突变,均可影响Ⅳ型胶原的折叠、分泌及基质形成等分子生物学功能,从而引起AS.方法：我们利用Ion Amplise
The CGG expansion (5~55) of FMR1 (fragile X mental retardation 1) gene was traditional defined as normal range.Actually, different expanded alleles might be associated with a quantity of phenotypic di
Objective: To examine whether sperm DNA fragmentation has the predictive value for ART outcomes of IVF/ICSI.Methods: An exhaustive electronic literature search was conducted on PubMed, Embase and CNKI
Congenital hyperinsulinism (CHI) is a severe heterogeneous disorder due to dysregulation of insulin secretion from the pancreatic β-cells leading to severe hypoglycemia in the neonatal, infancy and ch
Background: Cystic fibrosis (CF) , the most common life-threatening autosomal recessive disorder in Caucasians, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR)
目的：对河南汉族一成骨不全家系COL1A1基因突变进行检测分析，寻找其致病突变位点.方法：采用PCR技术和DNA直接测序法分析该家系患病者COL1A1基因所有外显子及内含子序列，并与该家系其他正常个体、50名健康个体及GeneBank序列进行比较分析.结果：该家系COL1A1基因共发现15个突变位点，其中包括1个错义突变、1个同义突变及13个内含子变异.该家系患病者均出现COL1A1基因第50外显
Copy Number Variation (CNVs) can be identified via single-nucleotide polymorphism (SNP)-based chromosomal microarray analysis (CMA) in fetus with ultrasound abnormality.However, uniparental disomy (UP
Background: Prenatal diagnosis of complete uniparental isodisomy of chromosome 4 (iUPD4) subjects has rarely been reported and poses a great challenge for genetic counseling.In this study, a prenatal