【作者】 崔英霞； 侯燕宁； 王云华； 郝丽君； 拜红霞； 李芳秋； 黄宇烽；

【Author】 Ying-Xia CUI, Yan-Ning HOU, Yun-Hua WANG, Li-Jun MAO, Hong-Xia BAI, Fang-Qiu LI Yu-Feng HUANG (Laboratory of Reproduction and Genetics, Nanjing General Hospital, Nanjing 210002, China; Department of Stomatology, Nanjing traditional hospital, 210001, China)

【机构】 南京军区南京总医院全军医学检验中心； 南京市中医院口腔科；

【摘要】 目的对1个牙本质生长不全Ⅱ型家系疾病基因进行定位。方法提取在南京地区发现的一个牙本质生长不全Ⅱ型家系18成员的外周血DNA,在染色体4q21上选择6个短串联重复序列(short tandem repeat,STR)位点,即D4S1534、GATA62A11、DSP(P)、DMP1、SPP1和D4S1563用连锁分析法分析该家系疾病基因与上述6个STR位点的连锁关系并进行染色体单倍型分型。结果有2个位点最大LOD值>3,分别是位点GATA62A11,得到最大连锁值3.86,(θ=0);位点DSP(P)最大连锁值4.72(θ=0),单倍型分析显示了疾病基因位于4q21上的D4S1534-DMP1区域内。结论牙本质生长不全Ⅱ型家系的疾病基因定位在4q21上。更多还原

【Abstract】 Objective To map the pathogenic gene of a family with dentinogenesis imperfecta type Ⅱ to a chromosomal position. Methods The blood samples were collected from the family with dentinogenesis imperfecta type Ⅱ including 18 individuals. We perform genetic linkage analyse of 6 short tandem repeat loci at the region of 4q21(D4S1534、GATA62A11、DSP(P)、DMP1、SPP1、D4S1563)as well as haplotyping by fluorescent- PCR. Result The maxinum Lod scroes of 2 loci were larger than 3 in which one was locus GATA62A11, Zmax=3.86(θ=0) and the other was locus DSP(P),Zmax=4.72(θ=0).The pathogenic gene of the family mapped to an interval between D4S1534-DMP1 at the region of 4q21 by haplotyping. Conclusion The pathogenic gene of the family is located at chromosome 4q21.更多还原