A genome wide linkage scan for cleft lip and palate and dental anomalies
A genome wide linkage scan for cleft lip and palate and dental anomalies
复制标题
DOI：
10.1002/ajmg.a.32295
复制
发表时间：
2008-06-01
影响因子：
2
通讯作者：
Marazita, Mary L.
中科院分区：
文献类型：
--
作者：
Vieira, Alexandre R.;McHenry, Toby G.;Marazita, Mary L.
我们重新访问了 46 个有两个或更多兄弟姐妹患有口颌裂的家庭，这些家庭参与了之前的全基因组研究，并收集了完整的牙科信息。重新分析了间隔为 10 cM 的 392 个微卫星标记的基因型。我们进行了四组全基因组分析。首先，我们仅对裂口状态进行分析。其次，我们为任何牙齿异常（牙齿发育不全、多生牙和小牙）分配一个影响状态，并重复分析。第三，我们只调查了先证者有唇裂但没有牙齿异常的 19 个家庭。最后，我们只调查了 27 个先证者患有唇裂且唇裂区域外有其他牙齿异常的家庭。染色体（1、2、6、8、16 和 19）呈现 LOD 分数 > 2.0 的区域。在我们的研究中，19 号染色体的结果最为引人注目。当对先证者没有其他牙齿异常的 19 个家庭进行研究时，LOD 分数从 3.11（在所有 46 个以唇裂作为唯一指定的情感状态的家庭的扫描中）增加到 3.91，这表明区间 19p13-12-19q12 可能包含导致唇裂但不导致牙齿异常的基因。另一方面，当将牙齿异常数据添加到分析中以定义影响状态时，我们发现 2q22.3 区域的 LOD 评分为 3.00。我们的初步结果支持以下假设：某些位点可能导致裂隙和先天性牙齿异常。此外，添加牙齿异常信息将为绘制裂隙易感位点提供新的机会。 (c) 2008 年 Wiley-Liss, Inc.
We revisited 46 families with two or more siblings affected with an orofacial cleft that participated in previous genome wide studies and collected complete dental information. Genotypes from 392 microsatellite markers at 10 cM intervals were reanalyzed. We carried out four sets of genome wide analyses. First, we ran the analysis solely on the cleft status. Second, we assigned to any dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) an affection status, and repeated the analysis. Third, we ran only the 19 families where the proband had a cleft with no dental anomalies. Finally, we ran only the 27 families that had a proband with cleft and additional dental anomalies outside the cleft area. Chromosomes (1, 2, 6, 8, 16, and 19) presented regions with LOD scores > 2.0. Chromosome 19 has the most compelling results in our study. The LOD scores increased from 3.11 (in the scan of all 46 families with clefts as the only assigned affection status) to 3.91 when the 19 families whose probands present with no additional dental anomalies were studied, Suggesting the interval 19p13-12-19q12 may contain a gene that contributes to clefts but not to dental anomalies. On the other hand, we found a LOD score of 3.00 in the 2q22.3 region when dental anomalies data were added to the analysis to define affection status. Our preliminary results support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies. Also, adding dental anomalies information will provide new opportunities to map susceptibility loci for clefts. (c) 2008 Wiley-Liss, Inc.