恒牙先天缺失（贺-赵氏缺陷）的新基因座定位于10q11.2染色体。

The novel gene locus for agenesis of permanent teeth (He-Zhao deficiency) maps to chromosome 10q11.2.

作者信息

Liu W, Wang H, Zhao S, Zhao W, Bai S, Zhao Y, Xu S, Wu C, Huang W, Chen Z, Feng G, He L

机构信息

Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, PR China.

出版信息

J Dent Res. 2001 Aug;80(8):1716-20. doi: 10.1177/00220345010800080701.

DOI:10.1177/00220345010800080701

PMID:11669481

Abstract

He-Zhao deficiency has been recently characterized with a distinct form of agenesis of permanent teeth that is different from other previously reported disorders of tooth agenesis. This inherited abnormality suggests that some gene(s) associated with the development of permanent teeth may mutate. In this study, we map the gene locus to chromosome 10q11.2. The DNA pooling method combined with two-point and multi-point linkage analysis has been successfully applied. The maximum LOD (Zmax) scores for two-point and multi-point analyses are 13.29 (on marker D10S196) at recombination fraction (theta) = 0 and 18.09 (between markers D10S1772 and D10S1766), respectively. Haplotype analysis confined the locus within an interval of 5.5 cM flanked by markers D10S604 and D10S568. This study has demonstrated a novel gene locus responsible for He-Zhao deficiency and provides a good likelihood for the discovery of one of the genes determining permanent tooth formation and development.

摘要

贺-赵氏牙发育不全最近被确定为一种独特的恒牙先天性缺失形式，与之前报道的其他牙发育不全疾病不同。这种遗传性异常表明，一些与恒牙发育相关的基因可能发生了突变。在本研究中，我们将该基因座定位到染色体10q11.2。DNA池化方法结合两点和多点连锁分析已成功应用。两点分析和多点分析的最大LOD（Zmax）分数分别为13.29（在标记D10S196上），重组率（θ）=0；以及18.0�（在标记D10S1772和D10S1766之间）。单倍型分析将该基因座限定在由标记D10S604和D10S568侧翼的5.5 cM区间内。本研究证明了一个导致贺-赵氏牙发育不全的新基因座，并为发现决定恒牙形成和发育的基因之一提供了很大可能性。