中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
2期
153-157
,共5页
张艳亮%戴勇%涂植光%李启运%王林纤%张丽%曾君%欧阳志斌
張豔亮%戴勇%塗植光%李啟運%王林纖%張麗%曾君%歐暘誌斌
장염량%대용%도식광%리계운%왕림섬%장려%증군%구양지빈
4q部分三体%10q部分单体%微阵列比较基因组杂交%核型%表型%相关性
4q部分三體%10q部分單體%微陣列比較基因組雜交%覈型%錶型%相關性
4q부분삼체%10q부분단체%미진렬비교기인조잡교%핵형%표형%상관성
partial trisomy 4q%partial monosomy 10q%array comparative genomic hybridization%karyotype%phenotype%correlation
目的 确定一生长迟缓、智力低下患儿的核型,分析其染色体变异与表型的相关性,同时探讨微阵列比较基因组杂交(array-based comparative genomic hybridization,array-CGH)在临床分子细胞遗传诊断中的应用及其优越性.方法 应用G显带染色体分析、array-CGH、荧光原位杂交(fluorescence in situ hybridization,FISH)和实时定量PCR(real-time quantitative PCR,RQ-PCR)对患儿及其亲属进行核型分析.结果 G显带染色体分析显示患儿存在1条来源于父亲的10号衍生染色体der(10)t(4;10)(q25;q26),其父亲和祖母均是t(4;10)(q25;q26)平衡易位携带者.Array-CGH显示患儿存在4q26-q35.2三体,并将断裂点定位于4q26,此外,还发现患儿10号染色体存在一约0.54 Mb的微缺失del(10)(q26.3).FISH和RQ-PCR证实父亲和祖母也存在del(10)(q26.3).结论 del(10)(q26.3)并不导致表型异常,患儿的异常表型可归因于4q26-q35.2三体.与传统的细胞遗传分析方法 相比,array-CGH具有高分辨率和高准确性等优点.
目的 確定一生長遲緩、智力低下患兒的覈型,分析其染色體變異與錶型的相關性,同時探討微陣列比較基因組雜交(array-based comparative genomic hybridization,array-CGH)在臨床分子細胞遺傳診斷中的應用及其優越性.方法 應用G顯帶染色體分析、array-CGH、熒光原位雜交(fluorescence in situ hybridization,FISH)和實時定量PCR(real-time quantitative PCR,RQ-PCR)對患兒及其親屬進行覈型分析.結果 G顯帶染色體分析顯示患兒存在1條來源于父親的10號衍生染色體der(10)t(4;10)(q25;q26),其父親和祖母均是t(4;10)(q25;q26)平衡易位攜帶者.Array-CGH顯示患兒存在4q26-q35.2三體,併將斷裂點定位于4q26,此外,還髮現患兒10號染色體存在一約0.54 Mb的微缺失del(10)(q26.3).FISH和RQ-PCR證實父親和祖母也存在del(10)(q26.3).結論 del(10)(q26.3)併不導緻錶型異常,患兒的異常錶型可歸因于4q26-q35.2三體.與傳統的細胞遺傳分析方法 相比,array-CGH具有高分辨率和高準確性等優點.
목적 학정일생장지완、지력저하환인적핵형,분석기염색체변이여표형적상관성,동시탐토미진렬비교기인조잡교(array-based comparative genomic hybridization,array-CGH)재림상분자세포유전진단중적응용급기우월성.방법 응용G현대염색체분석、array-CGH、형광원위잡교(fluorescence in situ hybridization,FISH)화실시정량PCR(real-time quantitative PCR,RQ-PCR)대환인급기친속진행핵형분석.결과 G현대염색체분석현시환인존재1조래원우부친적10호연생염색체der(10)t(4;10)(q25;q26),기부친화조모균시t(4;10)(q25;q26)평형역위휴대자.Array-CGH현시환인존재4q26-q35.2삼체,병장단렬점정위우4q26,차외,환발현환인10호염색체존재일약0.54 Mb적미결실del(10)(q26.3).FISH화RQ-PCR증실부친화조모야존재del(10)(q26.3).결론 del(10)(q26.3)병불도치표형이상,환인적이상표형가귀인우4q26-q35.2삼체.여전통적세포유전분석방법 상비,array-CGH구유고분변솔화고준학성등우점.
Objective To ascertain the karyotype of a girl with moderate mental retardation and growth retardation, perform correlation analysis between chromosomal variation and phenotype, and investigate the application and superiority of array-based comparative genomic hybridization (array-CGH) in clinical cytogenetic diagnosis. Methods G-banded chromosome analysis, array-CGH, fluorescence in situ hybridization (FISH) and real-time quantitative PCR (RQ-PCR) were used to ascertain the karyotype of the patient and her relatives. Results G-banding analysis of the patient showed a derivative chromosome 10 with an extra fragment on its long arm terminal, both her father and grandmother had an apparently balanced translocation t(4;10)(q25;q26). Array-CGH revealed that the breakpoint on chromosome 4 was located at 4q26. In addition, a microdeletion of about 0. 54 Mb del(10)(q26. 3) was identified from the patient. FISH and RQ-PCR confirmed that the del(10)(q26.3) was also present in both her father and grandmother. Conclusion No recognizable phenotype was associated with del(10)(q26.3). The abnormal phenotypes presented in the patient may be ascribed to the 4q26-q35.2 triplication. Further more, compared with conventional cytogenetic analysis, array-CGH is of high resolution and high accuracy.
