CAJ | 학술논문

先天性心脏病病因中目前明确的单基因遗传约占3％，染色体畸变占4％～5％，有90%病因尚不明确。近年来大量文献提示先天性心脏病存在新生殖细胞突变及体细胞突变，其中部分生殖细胞突变可以遗传，但遗传异质性显著，基于家系的连锁分析可以发现不同的基因变异及不同的遗传方式。但家系病例毕竟只占少数，且家系中发现的遗传突变，在占先心病大多数的散发病例血液标本中检出率极低，经分析目前研究进展，多考虑造成这种现象的原因是存在大量不同基因的新生殖细胞突变及体细胞突变。
선천성심장병병인중목전명학적단기인유전약점3％，염색체기변점4％～5％，유90%병인상불명학。근년래대량문헌제시선천성심장병존재신생식세포돌변급체세포돌변，기중부분생식세포돌변가이유전，단유전이질성현저，기우가계적련쇄분석가이발현불동적기인변이급불동적유전방식。단가계병례필경지점소수，차가계중발현적유전돌변，재점선심병대다수적산발병례혈액표본중검출솔겁저，경분석목전연구진전，다고필조성저충현상적원인시존재대량불동기인적신생식세포돌변급체세포돌변。
In the Congenital heart disease,about 3%having an established single mutant gene basis,and 4%~5%can be found exist chromosomal aberrations,however, more than 90% of the cause is not clear.Recent years,a large number of studies suggest that in congenital heart disease there are a lot of de novo mutations in germ cells and somatic mutations,some of which germline mutations can be inherited,but the genetic heterogeneity is notable and the genetic modes can be dif erent in dif erent gene mutations loci.After al ,only a few cases exhibit familial aggregation tendency, and the detection rate of the gene mutation found in the pedigree of congenital heart disease is very low in sporadic cases's blood samples.Recent studies suggest that the reasons for this phenomenon is there existences a large number of de novo mutations in germ cells and somatic mutations in many dif erent genes.