A NOVEL MULTIPLEX ASSAY Wth 5 STRP MARKERS FOR SCREENING AND DIAGNOSING 22q11.2 DELETION
Clinical and prognostic diagnosis of the 22q11. 2 deletion is important since the deletion has diverse medical complications and possible hereditary implications for close relatives. PCR-based genotyping of short tandem repeat polymorphic (STRP) marker is a common and powerful means of detecting microdeletion. We have developed a multiplex assay with 5 new tetranucleotide or pentanucleotide STR markers. 22D_4_5, 22D_5_1, 22D_4_3, 22D_4_4 and D22S873 in the proximal region of 22qll. 2 deletion. To ascertain that the assay could be used as qualified tools, we performed genotyping analysis on 200 unrelated individuals from Chinese Han population, 120 CHD patients and their unaffected parents. Population data showed that the 5 markers met Hardy-Weinberg expectations and are polymorphic. By using the the assay, 8 of 120 CHD patients were determined to have a deletion within chromosome 22q11. 2. Compared with dinucleotide markers, tetranucleotide or pentanucleotide markers produce less intensive stutter band and have no artificial multiband pattern. PCR amplification results from the 5 new STRP markers are unambiguous and easier to interpret in genotyping. This study demonstrated that the assay with the 5 markers were efficient and reliable and indicated that genotyping using tetranucleotide STRP markers is an alterative approach to detect the deletion on chromosome 22q11. 2 in clinical diagnosis and genetic consultation.
22q11.2 deletion congenital heart defect STRP marker
Long Yi Li Shen Xiaojun Zhou Zhengfeng Xu Xuming Mo Yali Hu Dongjin Wang Bing Han Yong Wang Chi Yang Yongzhong Jiang
Department of Pathology, Nanjing University Medical School, Nanjing 210093, China Department of Cardiothoracic Surgery, Nanjing Childrens Hospital, Nanjing 210008, China Center of Prenatal Diagnosis, Nanjing Maternity and Child Health Hospital, Nanjing 210029 China Department of Obstetrics and Gynecology, Department of Cardiothoracic Surgery of Drum Tower Hospital
国际会议
The 4th International Forum on Post-genome Technologies(4IFPT)(第四届国际后基因组生命科学技术学术论坛)
杭州
英文
67-71
2006-09-25（万方平台首次上网日期，不代表论文的发表时间）