遗传性乳光牙本质家系致病基因的染色体定位  

Chromosome localization of the dentinogenesis imperfecta type Ⅱ locus

作　　者：赵军[1] 吴丽更[1] 贾智[1] 张青松[1] 邢晓艳[1] 张晓海[2] 

机构地区：[1]天津医科大学口腔医院牙体牙髓科,300070 [2]中国医学科学院基础医学研究所中国协和医科大学基础医学院医学分子生物学国家重点实验室

出　　处：《中华口腔医学杂志》2002年第6期408-411,共4页Chinese Journal of Stomatology

基　　金：国家自然科学基金 ( 396 2 50 0 7);86 3基金 ( 10 2 10 0 30 5);973基金 (G19980 510 0 3)资助项目

摘　　要：目的　研究一个在天津塘沽地区发现的遗传性乳光牙本质回族家系致病基因是否与染色体 4q2 1连锁。方法　提取该家系 1 3名成员的外周血DNA ,选择染色体 4q2 1上的 8个短串联重复序列多态性标记 (shorttandemrepeatpolymorphisms ,STRPs)做荧光标记PCR等位片段分析 ,用lod连锁分析法分析该家系致病基因位点与上述 8个STRPs的连锁关系。结果　得到 1 3名个体 8个位点的基因型和单体型 ,连锁分析结果显示 :8个STRPs的最大lod值均大于 0 ,其中 5个STRPs的lod值大于 1。结论　该家系致病基因定位在染色体 4q2 1上 ,表明中国回族人和报道的欧美人的DGIObjective To investigate the linkage between dentinogenesis imperfecta typeⅡand chromosome 4q21 in a Tianjin Tanggu family of the Hui nationality Methods Blood samples were collected from 13 family members DNAs were analyzed with 8 STRP markers (D4S2915?D4S2932?GATA62A11?D4S2409?DSP STRP?SPP1 STRP?D4S1563?D4S1544)using fluorescence based PCR The linkage between eight markers on chromosome 4q21 and dentinogenesis imperfecta typeⅡlocus was tested respectively by lod score analysis Results Genotype and haplotype were acquired Genetic linkage analysis demonstrated the maximum lod score of eight STRPs were all larger than zero,in which five of them were larger than 1 Conclusion The locus of dentinogenesis imperfecta typeⅡin Chinese family is located on human chromosome 4q21,which indicated that the locus of Chinese Hui nationality should be the same as that of other reported European or American family

关 键 词：遗传性乳光牙本质 染色体定位 牙本质生成不全 遗传学 串联重复序列多态性标记 家系调查 致病基因 

分 类 号：R781.2[医药卫生—口腔医学]