南京医科大学学报(英文版)
南京醫科大學學報(英文版)
남경의과대학학보(영문판)
JOURNAL OF NANJING MEDICAL UNIVERSITY(ENGLISH EDITION)
2004年
5期
250-255
,共6页
吴锦丹%沈捷%马立隽%李康%林媛豪%陈家伟%马向华%柴伟栋
吳錦丹%瀋捷%馬立雋%李康%林媛豪%陳傢偉%馬嚮華%柴偉棟
오금단%침첩%마립준%리강%림원호%진가위%마향화%시위동
胖%糖尿病,α型%胰岛素抵抗%分子遗传学
胖%糖尿病,α型%胰島素牴抗%分子遺傳學
반%당뇨병,α형%이도소저항%분자유전학
β3-adrenergic receptor%gene%obesity%type 2 diabetes mellitus%insulin resistance%molecular genetics
目的:研究肥胖、2型糖尿病、胰岛素抵抗与β3-AR基因之间的关系及其在家系遗传中的规律.方法:运用PCR-RFLP技术分析了8个肥胖伴糖尿病家系的β3-AR基因外显子64位色氨酸/精氨酸(tryptophan to arginineTrp64Arg)多态性.结果:β3-AR基因与肥胖进行连锁,在常染色体显性遗传模式下,单个家系(家系3)最大LOD值为3.885 109(θ=20.000 00).将β3-AR基因与2型糖尿病进行连锁,在常染色体显性遗传模式下,单个家系(家系2)LOD最大值为0.222 336(θ=0.000 000),在常染色体隐性遗传模式下,单个家系(家系4)LOD最大值为0.805 003(θ=0.000 0000).结论:Trp64Arg多态性改变是部分家系肥胖产生的直接原因.
目的:研究肥胖、2型糖尿病、胰島素牴抗與β3-AR基因之間的關繫及其在傢繫遺傳中的規律.方法:運用PCR-RFLP技術分析瞭8箇肥胖伴糖尿病傢繫的β3-AR基因外顯子64位色氨痠/精氨痠(tryptophan to arginineTrp64Arg)多態性.結果:β3-AR基因與肥胖進行連鎖,在常染色體顯性遺傳模式下,單箇傢繫(傢繫3)最大LOD值為3.885 109(θ=20.000 00).將β3-AR基因與2型糖尿病進行連鎖,在常染色體顯性遺傳模式下,單箇傢繫(傢繫2)LOD最大值為0.222 336(θ=0.000 000),在常染色體隱性遺傳模式下,單箇傢繫(傢繫4)LOD最大值為0.805 003(θ=0.000 0000).結論:Trp64Arg多態性改變是部分傢繫肥胖產生的直接原因.
목적:연구비반、2형당뇨병、이도소저항여β3-AR기인지간적관계급기재가계유전중적규률.방법:운용PCR-RFLP기술분석료8개비반반당뇨병가계적β3-AR기인외현자64위색안산/정안산(tryptophan to arginineTrp64Arg)다태성.결과:β3-AR기인여비반진행련쇄,재상염색체현성유전모식하,단개가계(가계3)최대LOD치위3.885 109(θ=20.000 00).장β3-AR기인여2형당뇨병진행련쇄,재상염색체현성유전모식하,단개가계(가계2)LOD최대치위0.222 336(θ=0.000 000),재상염색체은성유전모식하,단개가계(가계4)LOD최대치위0.805 003(θ=0.000 0000).결론:Trp64Arg다태성개변시부분가계비반산생적직접원인.
Objective: To explore the association between the polymorphism of the β3-adrenergic receptor(R-AR) gene and obesity, type 2 diabetes, insulin resistance in Chinese pedigrees. Methods: Eight pedigrees with obesity and type 2 diabetes have been detected with the technique of PCR-RFLP in codon 64 of the exon region representing the variation Trp64 Arg of β3-AR gene. Results: In pedigree linkage analysis, the maximal LOD score of β3-AR gene with obesity was 3. 385 109 ( 0 = 0.000 000) at the mode of autosomal dominant in pedigree 3. The maximal LOD score of β3-AR with type 2 diabetes was 0.222336(0 =0. 000 000) at the mode of autosomal dominant in pedigree 2 and 0.805 003 ( 0 = 0.000 000) at the mode of autosomal recessive in pedigree 4.ial obesity. Pedigree linkage analysis can powerfully help to understand the action mechanism of the candidate genes. 2Better comphrehension the workings of adrenergic receptors should provide a new understanding of obesity, type 2 diabetes and insulin resistance and perhaps lead to new methods of treatment.