CAJ | 학술논문

目的探讨人类染色体异常与疾病的关系,并进行临床分析.方法 2010年1-12月,对498例有不良孕产史、不孕症、习惯性流产、生育畸形、死胎、死产、智力低下、表型异常、有遗传病家族史等前来就诊和咨询者进行细胞遗传学检查.取受检者肝素抗凝外周血,无菌条件下进行淋巴细胞培养,G显带,计数30个分裂相,分析核型3个,异常者加倍分析.必要时行C和R显带分析.结果 498例染色体检查中,染色体异常84例,染色体异常检出率为16.87％.其中常染色体异常79例,占94.05％；性染色体异常5例,占5.95％；经中国医学遗传中心鉴定,世界首报染色体异常核型5例,占染色体异常的5.95％.结论染色体核型分析可有效检出染色体病携带者,降低人群发病率,对于明确病因、干预、再次妊娠进行生育指导、治疗及预后十分必要.
목적 탐토인류염색체이상여질병적관계,병진행림상분석.방법 2010년1-12월,대498례유불량잉산사、불잉증、습관성유산、생육기형、사태、사산、지력저하、표형이상、유유전병가족사등전래취진화자순자진행세포유전학검사.취수검자간소항응외주혈,무균조건하진행림파세포배양,G현대,계수30개분렬상,분석핵형3개,이상자가배분석.필요시행C화R현대분석.결과 498례염색체검사중,염색체이상84례,염색체이상검출솔위16.87％.기중상염색체이상79례,점94.05％；성염색체이상5례,점5.95％；경중국의학유전중심감정,세계수보염색체이상핵형5례,점염색체이상적5.95％.결론 염색체핵형분석가유효검출염색체병휴대자,강저인군발병솔,대우명학병인、간예、재차임신진행생육지도、치료급예후십분필요.
Objective To discuss human chromosome anomalies and their relation with human diseases,as well as their application in clinical practice.Methods From January to December 2010,a total of 498 patients was studied for cytogenetic testing,due to abnormal past pregnancy history,abnormal hermaphrodite,and family history of genetic disease,etc.Routine periopheral blood chromosome analysis was done,for G-banding,with 30 counting and 3 karyptyping and abnormal doubles the analysis.Further C and R banding were also used as needed.Results From 498 patients studied,84 samples were found to have abnormal chromosomes/karyotypes.Detection rate was 16.87％,with 79 autosomal anomalies (94.05 ％ ) and 5 sex chromosomes ( 5.95 ％ ).As confirmed by the Medical Genetics Center of China,there were 5 cases with novel abnormal karyotypes in the world ( 5.95％ ).Conclusion Chromosome analysis is very helpful for carrier detection,to reduce human disease,and to help make clinical diagnosis.These information is to be useful for clincal diagonsis,prognosis and management of pregnancy and newborn.