| 家族性混合型高脂血症与人类染色体1q21-23连锁 |
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| 引用本文： | 裴卫东,Heike Baron.家族性混合型高脂血症与人类染色体1q21-23连锁[J].中华医学杂志,2000,80(1):25-27. |
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| 作者姓名： | 裴卫东 Heike Baron |
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| 作者单位： | ： |
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| 基金项目： | ：国家自然科学基金资助项目(39870289)、国家教委博士点基金项目、中德医学科技合作基金资助项目 |
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| 摘 要： | 目的 利用中国和德国非隔离人群家族性混合型高脂血症家系证实家族性混合型高脂血症与人类１号染色体是否存在连锁位点。方法 从德国搜集２４个（１３３人）及中国１２个（８１个）家族性混合型高脂血症家系，选择４个微卫星遗传标记ＡｐｏＡ２、Ｄ１Ｓ１６７７、Ｄ１Ｓ１０４和Ｄ１Ｓ１９４，利用ＧＥＮＥＨＵＮＴＥＲ软件包进行多点连锁分析。结果 多点连锁分析显示Ｄ１Ｓ１０４附近的遗传标记Ｄ１Ｓ１９４有最大ＬＯＤｓｃｏｒ
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| 关 键 词： | 高脂血症 家族性混合型 遗传学 |
| 修稿时间： | 1999-03-15 |
Linkage of familial combined hyperlipidemia to chromosome 1q21-23 in Chinese and German families |
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| Heike Baron.Linkage of familial combined hyperlipidemia to chromosome 1q21-23 in Chinese and German families[J].National Medical Journal of China,2000,80(1):25-27. |
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| Authors: | Heike Baron |
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| Institution: | Sino-German Laboratory for Molecular Medicine, Fu Wai Hospital, Cardiovascular Institute, PUMC & CAMS, Beijing 100037, China. |
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| Abstract: | Objective Toexaminefamilialcombinedhyperlipidemia (FCHL)familiesfromnonisolated regionsinChinaandGermanytoseeifwecouldcorroboratesupportforachromosome 1qFCHLlocusinmore generalpopulations Methods Werecruited 2 4Germanfamilieswith 13 3membersand 12Chinesefamilieswith atotalof 81membersinChina ThemarkersApoA2 ,D1S1677,D1S10 4 ,andD1S194wereexaminedby multipointlinkageanalysis Results MultipointlinkageanalysisallowingforheterogeneitygaveamaximumLOD score(HLOD)of1 97rightoverD1S194 ,estimatingtheproportionoflinkedfamiliesat 17% Thismarkerwas adjacenttoD1S10 4 TheevidenceforlinkagewasroughlythesamebothintheGerman ( 13 % ,HLODD1S194= 1 0 8)andChinesefamilies (proportionoflinkedfamilies 2 6% ,HLODD1S194=0 97) Conclusion Inthelightof therelativelysmallnumbersandtheheterogeneityourpopulationsrepresent,weinterpretourobservationsas encouragingsupportfortherecentfindingsindicatingthepresenceoflinkageforFCHLonchromosome 1q2 1 2 3 |
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| Keywords: | Hyperlipidemia familialcombined Genetics |
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