中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
2期
190-194
,共5页
邓建英%张泽伟%李建华%朱宇宁%杨建滨%高展%应力阳
鄧建英%張澤偉%李建華%硃宇寧%楊建濱%高展%應力暘
산건영%장택위%리건화%주우저%양건빈%고전%응력양
染色体畸变%缺失%评价方法
染色體畸變%缺失%評價方法
염색체기변%결실%평개방법
chromosome abnormality%deletion%evaluation analysis
目的 对多重连接探针扩增(multiplex ligation-dependent probe amplification,MLPA)诊断染色体22q11.2微缺失结果进行评价.方法 应用MLPA及荧光原位杂交(fluorescence in situ hybridization,FISH)两种方法分别检测了32份儿童(男16例,女16例;年龄1~13岁,平均3.6±3.1岁)血样本,其中16例为染色体22q11.2微缺失患儿组(阳性对照组),16名为体检正常儿童组(阴性对照组).采用灵敏度、特异度及Kappa分析来评估结果.结果 MLPA检测32份样本中,16例阳性对照样本均有染色体22q11.2微缺失,且缺失片段长度约3-Mb;16名对照样本中未发现22号染色体缺失.FISH证实16例22q11.2微缺失患儿均存在缺失,16名对照样本不存在缺失.因此,MLPA诊断染色体22q11.2微缺失的灵敏度及特异度高.结论 MLPA是一种快速、可靠、高通量及相对经济的诊断染色体22q11.2微缺失的有效方法,弥补了FISH技术的不足,可用于临床实验室快速诊断染色体22q11.2微缺失,具有较高的临床诊断价值.
目的 對多重連接探針擴增(multiplex ligation-dependent probe amplification,MLPA)診斷染色體22q11.2微缺失結果進行評價.方法 應用MLPA及熒光原位雜交(fluorescence in situ hybridization,FISH)兩種方法分彆檢測瞭32份兒童(男16例,女16例;年齡1~13歲,平均3.6±3.1歲)血樣本,其中16例為染色體22q11.2微缺失患兒組(暘性對照組),16名為體檢正常兒童組(陰性對照組).採用靈敏度、特異度及Kappa分析來評估結果.結果 MLPA檢測32份樣本中,16例暘性對照樣本均有染色體22q11.2微缺失,且缺失片段長度約3-Mb;16名對照樣本中未髮現22號染色體缺失.FISH證實16例22q11.2微缺失患兒均存在缺失,16名對照樣本不存在缺失.因此,MLPA診斷染色體22q11.2微缺失的靈敏度及特異度高.結論 MLPA是一種快速、可靠、高通量及相對經濟的診斷染色體22q11.2微缺失的有效方法,瀰補瞭FISH技術的不足,可用于臨床實驗室快速診斷染色體22q11.2微缺失,具有較高的臨床診斷價值.
목적 대다중련접탐침확증(multiplex ligation-dependent probe amplification,MLPA)진단염색체22q11.2미결실결과진행평개.방법 응용MLPA급형광원위잡교(fluorescence in situ hybridization,FISH)량충방법분별검측료32빈인동(남16례,녀16례;년령1~13세,평균3.6±3.1세)혈양본,기중16례위염색체22q11.2미결실환인조(양성대조조),16명위체검정상인동조(음성대조조).채용령민도、특이도급Kappa분석래평고결과.결과 MLPA검측32빈양본중,16례양성대조양본균유염색체22q11.2미결실,차결실편단장도약3-Mb;16명대조양본중미발현22호염색체결실.FISH증실16례22q11.2미결실환인균존재결실,16명대조양본불존재결실.인차,MLPA진단염색체22q11.2미결실적령민도급특이도고.결론 MLPA시일충쾌속、가고、고통량급상대경제적진단염색체22q11.2미결실적유효방법,미보료FISH기술적불족,가용우림상실험실쾌속진단염색체22q11.2미결실,구유교고적림상진단개치.
Objective To evaluate multiplex ligation-dependent probe amplification (MLPA) assay detection in analysis of chromosome 22q11.2 microdeletion. Methods Between March 2008 and September 2009, thirty-two patients including 10 males and 16 females aged between years (3.6±3.1) were selected and evaluated by history, physical examination and medical records. Of these patients, sixteen patients who were previous diagnostic as 22q11.2 microdeletion were in positive control group, the other 16 healthy children were in negative control group. All the patients were detected by MLPA and fluorescence in situ hybridization (FISH) for the presence of a 22q1 1.2 microdeletion after informed consent. Diagnostic efficacy was assessed by sensitivity, specificity and Kappa analysis. Results We have applied the two assays of detection of chromosome 22q11.2 microdeletion in 32 patients. Sixteen patients in positive control group were found to have a 22q11. 2 deletion and, with the deletion size of 3-Mb. However, as expected,chromosome 22q11.2 deletion was not found in negative control group. The MLPA results were in good agreement with that by FISH. Therefore, MLPA has high sensitivity and specificity. Conclusion MLPA is a rapid, reliable, high-throughput and relatively economical alternative to FISH technology for the diagnosis of 22q11.2 microdeletion. It can provide reliable and helpful information for clinical diagnosis of 22q11.2 microdeletion syndrome.