摘要
目的探讨5个短串联重复(shorttandemrepeat,STR)标记用于检测22q11微缺失的可行性,了解中国汉族未经挑选的先天性心脏畸形患者中22q11微缺失的发生情况。方法选择位于22q11缺失区域的5个STR标记,对163例中国汉族先天性心脏畸形(congenitalheartdefect,CHD)患者及双亲进行单倍型分析,对检出的阳性病例及部分阴性病例进行荧光原位杂交(fluorescenceinsituhybridization,FISH)验证。结果5个标记均具有较好的信息量,22D41和22D42杂合率分别为0.65和0.52,22D43、22D44和D22S873杂合率均在0.7以上,可用于汉族人群多态性分析;163例先天性心脏畸形患者用STR标记检出12例22q11微缺失,其中9例得到FISH检测证实,2例微小缺失和1例远端缺失FISH检测为阴性;CHD患者22q11微缺失检出率为7.36%,室间隔缺损微缺失检出率为8.18%(9/110),法乐氏四联征检出率为14.3%(3/21),其它类型的CHD未检出缺失。结论5个STR标记可用于汉族人群22q11微缺失的检测,且有快速、成本低的优点;中国汉族CHD患者中存在一定比率的22q11微缺失,尤其是室间隔缺损和法乐氏四联征较为常见。
Objective To ascertain 5 short tandem repeat （STR） markers as qualified tools for deteciing ehromosome 22q11.2 deletion and to understand the prevalence and clinical importance of the deletions in patients with congenital heart diseases （CHD） from Chinese Han population. Methods The authors selected 5 new tetranucleotide repeat markers, 22D_4_1,22D_4_2,22D_4_3,22D_4_4 and D22S873 located in the proximal region of chromosome 22q11 deletion. One hundred and sixty-three unselected CHD patients and their unaffected parents were analyzed by genotyping of these new tetranucleotide STIR markers to detect 22q11 .2 deletion. With fluorescence in situ hybridization （FISH, LSI dual color DNA probe）, the deletion status was confnmed in all patients with deletions and some patients without deletions. Results The heterozygosity of these STIR markers in normal population was 〉 0.7, except for 22D _ 4 _ 1 and 22D_ 4 _2 that were 0.65 and 0.52 respectively. Twelve cases of 163 CHD patients （7.36%） had the deletions at chromosome 22q11. The deletions were confirmed in 9 of 12 patients by FISH, except for 2 cases who had unique nested deletion and 1 case who had nested distal deletion. One hundred and ten patients were associated with ventricular septal defect （VSD） ; and 9 （8.18%） of these cases had microdeletion. Twenty-one patients were associated with tetralogy of Fallot （TOF）; and 3 （14.3%） ofthese cases had mieredeletion. Conclusion This study demonstrated that genotyping of 5 STR markers was a useful mean of detecting 22q11 mierodeletion in clinical diagnosis owing to its rapid experimental procedure, cost effectiveness and high resolution. 22q11 deletion was common in CHD patients, particularly in VSD and TOF patients, from Chinese Han population.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2006年第3期250-255,共6页
Chinese Journal of Medical Genetics
基金
南京市医学发展重点项目(ZKX0312)~~
