| 引用本文： |
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李勤,陈凤山,李九军.一个单纯性下颌前突家系的遗传研究[J].同济大学学报（医学版）,2010,31(3):74-76. [点击复制]
- LI Qin,CHEN Feng-shan,LI Jiu-jun.A genetic analysis of a simplex mandibular progathism pedigree[J].同济大学学报（医学版）,2010,31(3):74-76. [点击复制]
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| 摘要: |
| 目的对一个中国汉族单纯性下颌前突家系进行遗传研究，为找到其致病机制奠定基础。方法先对这一单纯性下颌前突家系的遗传模式进行判断，再根据侯选区域法，对1p36、6q25、19p13．2、1p22．1、3q26．2、11q22、12q13．13、12q23区域利用微卫星位点进行基因分型，并用Linkage和Genehunter等软件对基因分型的结果进行参数和非参数连锁分析，分析此次实验家系的下颌前突致病基因是否存在于这些侯选区域。结果此家系共21人，有11例患者，其中10例是直系家属，5例男性患者，5例女性患者。该家系在1p36，6q25，19p13．2，1p22．1，3q26．2，12q13．13，12q23区域分析结果LOD值均小于0。而在11q22区域，微卫星位点D1IS1886与D11S4206之间（遗传距离为3．1cm），LOD值分别为0．59和0．63，NPL值分别为1．18、1．19。结论该汉族单纯性下颌前突家系为单基因遗传。最有可能的遗传模式为常染色体显性或不完全外显性遗传。中国汉族可能存在其他未报道过的基因位点，拟下一步做全基因组扫描确认。 |
| 关键词: 下颌前突 遗传 连锁分析 |
| DOI：10.3969/j .issnl008 -0392 .2010.03.018 |
| 投稿时间：2010-04-01 |
| 基金项目:上海市浦江人才计划（07PJ1- 1408100) |
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| A genetic analysis of a simplex mandibular progathism pedigree |
| LI Qin,CHEN Feng-shan,LI Jiu-jun |
| () |
| Abstract: |
| Objective To explore the molecular pathogenesis of mandibular prognathism （MP）,a simplex MP pedigree was genetic analysized. Methods The genetic pattern of this pedigree was speculated with online database. Eight candidate regions lp36, 6q25, 19p13.2, lp22.1, 3q26.2, 11q22, 12q13.13, 12q23 were selected for testing the pedigree of 21 members, STR markers were used for genotyping analysis, and Linkage and Genehunter software were used to analyse whether there is the disease-causing gene exists in these regions. Results Twenty one family members of this pedigree were involved in the study. Eleven members confirmed with MP. Ten of them are lineal relatives （five male and five female）. The LOD value of regions 1p36, 6q25, 19p13.2, lp22.1, 3q26.2, 12q13.13, 12q23 were less than 0. However in region 11q22 between marker DllS1886 and DllS4206 （genetic distance was 3.1cm ）, LOD value were 0.59 and 0.63, NPL value were 1.18 and 1.19 respectively. Conclusion The result indicates that the MP inheritance most likely with a single gene pass down. The MP heritability patterns maybe an autosomal-dominant or autosomal-dominant with incomplete penetrance in Chinese Han people. There maybe another regions for MP in Chinese Han people by using a genome-wide scan. A futher study is needed to confirm this speculation. |
| Key words: mandibular prognathism genetic linkage analysis |
