CAJ | 학술논문

目的探讨单纯性法洛四联症(tetralogy of Fallot,TOF)患儿染色体22q11.2微缺失发生率及其临床表型.方法应用多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)对68例(男38例、女30例)0～11岁单纯性TOF患儿进行22q11.2微缺失分析,并利用荧光原位杂交(fluorescence in situ hybridization,FISH)对结果进行验证.运用SPSS 11.5软件Fisher确切概率检验进行数据统计分析.结果在68例单纯性TOF患儿中,7例(10.3％)被检出具有22q11.2微缺失,其中4例为肺动脉狭窄型TOF,3例为肺动脉瓣闭锁型TOF.肺动脉瓣闭锁型TOF患儿22q11.2微缺失发生率(3/9,33.3％)明显高于肺动脉狭窄型TOF患儿(4/59,6.80％)(P＜0.05).结论染色体22q11.2微缺失是单纯性TOF发生的常见遗传学病因.相较于其它类型的TOF,该缺失更容易导致肺动脉瓣闭锁型TOF.临床医生应加强对此类患儿的遗传筛查及咨询.
목적 탐토단순성법락사련증(tetralogy of Fallot,TOF)환인염색체22q11.2미결실발생솔급기림상표형.방법 응용다중련접탐침확증기술(multiplex ligation-dependent probe amplification,MLPA)대68례(남38례、녀30례)0～11세단순성TOF환인진행22q11.2미결실분석,병이용형광원위잡교(fluorescence in situ hybridization,FISH)대결과진행험증.운용SPSS 11.5연건Fisher학절개솔검험진행수거통계분석.결과 재68례단순성TOF환인중,7례(10.3％)피검출구유22q11.2미결실,기중4례위폐동맥협착형TOF,3례위폐동맥판폐쇄형TOF.폐동맥판폐쇄형TOF환인22q11.2미결실발생솔(3/9,33.3％)명현고우폐동맥협착형TOF환인(4/59,6.80％)(P＜0.05).결론 염색체22q11.2미결실시단순성TOF발생적상견유전학병인.상교우기타류형적TOF,해결실경용역도치폐동맥판폐쇄형TOF.림상의생응가강대차류환인적유전사사급자순.
Objective To investigate the frequency and clinical phenotypes of 22q11.2 microdeletion in patients with non-syndromic tetralogy of Fallot (TOF).Methods Six-eight non-syndromic TOF patients (38 males and 30 females,aged 0-11 years) were selected and evaluated by history,physical examination and review of medical records. After informed consent was obtained,peripheral blood was drawn for genomic DNA extraction.Chromosome 22q11.2 microdeletion was screened by multiplex ligation-dependent probe amplification (MLPA). Suspected cases were confirmed with fluorescence in situ hybridization (FISH).Data was analyzed with SPSS 11.5 software.Phenotype-genotype correlations were assessed using Fisher's exact test.P values less than 0.05 on a 2-sided test were considered to be significant.Results Six-eight non-syndromic TOF children were screened for a 22q11.2 deletion,among which 59 (86.8％)presented pulmonary stenosis (PS) and 9 (13.2 ％ ) presented pulmonary atresia (PA).Seven patients (10.3％) were found to have carried a deletion.Among these,four had TOF-PS,three had TOF-PA.The frequency of 22q1 1.2 deletion in patients with TOF-PA (3/9,33.3 ％ ) is much higher than that of TOF-PS (4/59,6.80％) (P＜0.05).Conclusion 22q11.2 microdeletion is present in approximately 10.3％ of patients with non-syndromic TOF.The deletion tends to have a higher prevalence in patients with TOF-PA.22q11.2 deletion should be screened in non-syndromic TOF children and genetic counselling may be provided.