DENTAL DISEASES AND A GENE MAP OF HUMAN CHROMOSOME NO 4

牙科疾病和人类 4 号染色体基因图谱

• 批准号: 3424906
• 负责人: MAIMON M COHEN
• 金额: $ 2.09万
• 依托单位: UNIVERSITY OF MARYLAND BALTIMORE
• 依托单位国家: 美国
• 财政年份: 1985
• 资助国家: 美国
• 起止时间: 1985-03-01 至 1986-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3424906
• 关键词: autosomal dominant trait; autosomal recessive trait; child (0-11); congenital dentition disorder; cytogenetics; gene expression; genetic mapping; genetic markers; genotype; human population genetics; human subject; linkage mapping; periodontitis; sex linked trait

Two inherited dental conditions, dentinogenesis imperfecta (DGI) and juvenile periodontitis (JP) are co-segregating in five generations of a large inbred Southern Maryland kindred. Previous studies have documented that DGI is inherited as an autosomal dominant trait, while JP demonstrates either an autosomal recessive or X-linked dominant mode of inheritance. However, the appearance of only a single recombinant mode of inheritance. However, the appearance of only a single recombinant individual among the 47 members of this family suggests that the JP observed in this kindred may also be due to an autosomal dominant gene. The gene determining Gc phenotypes has been assigned to human chromosome No. 4 and has demonstrated close linkage with the locus for DGI. Therefore, by inference, the preliminary analysis of data from a segment this family suggest that JP is also on chromosome 4. Two additional markers for chromosome No. 4, i. e., the gene for plasminogen and the quinacrine fluorescent polymorphism at the centromere, will also be utilized in this study. Genotypic data for these markers on all individuals in this kindred will be analyzed to determine linkage relationships among the five loci. Moreover, such information may also permit more exact ordering of the linear sequence of these genes in the centromeric region of chromosome No. 4.

两种遗传性牙齿疾病，牙本质生成异常（DGI）和 青少年牙周炎（JP）共分离在五个世代， 大的近亲繁殖的南部马里兰州亲属。 既往研究已经证明 DGI是作为常染色体显性遗传性状遗传的，而JP证明 常染色体隐性或X连锁显性遗传方式。 但是，重组体的出现只是单一的遗传方式。 然而，在所有的重组个体中，只有一个重组个体的出现， 47名成员表明，在这个家族中观察到的JP可能 也可能是由于常染色体显性基因。 决定Gc表型的基因已被确定在人类染色体上 号4，并已证明与DGI基因座的紧密连锁。 因此，通过推断，对来自一个段的数据的初步分析 该家族提示JP也位于4号染色体上。 两个附加 4号染色体标记，i.例如，纤溶酶原基因和 在着丝粒的奎纳克林荧光多态性，也将是 在这项研究中使用。 这些标记物在该家系中所有个体上的基因型数据将在 分析以确定五个位点之间的连锁关系。 此外，委员会认为， 这样的信息还可以允许线性序列的更精确排序 这些基因在4号染色体的着丝粒区域。

项目成果

An autosomal-dominant form of juvenile periodontitis: its localization to chromosome 4 and linkage to dentinogenesis imperfecta and Gc.

青少年牙周炎的常染色体显性形式：其定位于 4 号染色体并与牙本质发生不全和 Gc 相关。

• 发表时间: 1986
• 期刊: Journal of craniofacial genetics and developmental biology
• 作者: Boughman,JA;Halloran,SL;Roulston,D;Schwartz,S;Suzuki,JB;Weitkamp,LR;Wenk,RE;Wooten,R;Cohen,MM
• 通讯作者: Cohen,MM