华中科技大学学报（医学版）
華中科技大學學報（醫學版）
화중과기대학학보（의학판）
ACTA UNIVERSITATIS MEDICINAE TONGJI
2010年
1期
124-126,132
,共4页
张守焰%王旭%杨钧国%孙图成%刘木根%王擎
張守燄%王旭%楊鈞國%孫圖成%劉木根%王擎
장수염%왕욱%양균국%손도성%류목근%왕경
先天性甲状腺功能亢进症%染色体显性遗传%TSHR%THRB%微卫星%连锁分析
先天性甲狀腺功能亢進癥%染色體顯性遺傳%TSHR%THRB%微衛星%連鎖分析
선천성갑상선공능항진증%염색체현성유전%TSHR%THRB%미위성%련쇄분석
congenital hyperthyroidism%autosomal dominant%TSHR%THRB%microsatellite%linkage analysis
目的 对一个常染色体显性遗传的先天性甲状腺功能亢进症家系,进行与已知致病基因TSHR和THRB的连锁分析以确定此家系致病基因是否为这2个已知基因.方法 选择3个与TSHR和THRB紧密连锁的微卫星标记物D14S74、D3S2338和D3S1266,进行微卫星标记的基因连锁分析,采用Genemapper 3.5软件分析数据. 结果 3个微卫星标记物的LOD值均小于1,显示该家系致病基因与这3个位点均不连锁,提示该家系可能存在新致病基因. 结论 常染色体显性遗传类型的先天性甲状腺功能亢进症可能有新致病基因.
目的 對一箇常染色體顯性遺傳的先天性甲狀腺功能亢進癥傢繫,進行與已知緻病基因TSHR和THRB的連鎖分析以確定此傢繫緻病基因是否為這2箇已知基因.方法 選擇3箇與TSHR和THRB緊密連鎖的微衛星標記物D14S74、D3S2338和D3S1266,進行微衛星標記的基因連鎖分析,採用Genemapper 3.5軟件分析數據. 結果 3箇微衛星標記物的LOD值均小于1,顯示該傢繫緻病基因與這3箇位點均不連鎖,提示該傢繫可能存在新緻病基因. 結論 常染色體顯性遺傳類型的先天性甲狀腺功能亢進癥可能有新緻病基因.
목적 대일개상염색체현성유전적선천성갑상선공능항진증가계,진행여이지치병기인TSHR화THRB적련쇄분석이학정차가계치병기인시부위저2개이지기인.방법 선택3개여TSHR화THRB긴밀련쇄적미위성표기물D14S74、D3S2338화D3S1266,진행미위성표기적기인련쇄분석,채용Genemapper 3.5연건분석수거. 결과 3개미위성표기물적LOD치균소우1,현시해가계치병기인여저3개위점균불련쇄,제시해가계가능존재신치병기인. 결론 상염색체현성유전류형적선천성갑상선공능항진증가능유신치병기인.
Objective Gene linkage would be processed in order to make sure if an autosomal dominant congenital hyperthyroidism family has genetic linking relationship with the known hyperthyroidism disease genes,TSHR or THRB.Methods Microsatellite marked gene linkage was done with the use of three microsatellite markers,D14S74,D3S2338 and D3S1266,whose chromosomal locations were very close to TSHR or THRB gene,and the results were analyzed by Genemapper 3.5 Software.Results LOD scores of the three markers were all less than 1,revealing that there were no linking relationships between TSHR or THRB gene and this hyperthyroidism family,further reflecting this family might have a new disease gene other than TSHR and THRB.Conclusion There might be new disease genes responsible for autosomal dominant congenital hyperthyroidism.
