CAJ | 학술논문

目的探讨先天性髋关节脱位 (CDH) 与22、7号染色体之间的连锁关系.方法以4个云南地区CDH家系为研究对象,提取所有家系成员的DNA.选用人类连锁协作中心 (CHLC) 开发的微卫星多态标记,其中8个平均分布于22号染色体,10个分布于7号染色体.进行PCR扩增,产物进行非变性凝胶电泳,银染色.凝胶分析系统行等位基因分型.应用Linkage软件包在不同的重组率条件下行参数型连锁分析,设疾病基因频率为0.02.结果所有位点表现了较高杂合度和多态性,基因型数据符合孟德尔定律.22、7号染色体两点连锁分析,LOD值<1,表示不存在连锁关系.提示4个家系CDH与各微卫星位点不存在连锁关系.结论排除云南地区CDH家系致病基因位于22、7号染色体上.
목적 탐토선천성관관절탈위 (CDH) 여22、7호염색체지간적련쇄관계.방법 이4개운남지구CDH가계위연구대상,제취소유가계성원적DNA.선용인류련쇄협작중심 (CHLC) 개발적미위성다태표기,기중8개평균분포우22호염색체,10개분포우7호염색체.진행PCR확증,산물진행비변성응효전영,은염색.응효분석계통행등위기인분형.응용Linkage연건포재불동적중조솔조건하행삼수형련쇄분석,설질병기인빈솔위0.02.결과 소유위점표현료교고잡합도화다태성,기인형수거부합맹덕이정률.22、7호염색체량점련쇄분석,LOD치<1,표시불존재련쇄관계.제시4개가계CDH여각미위성위점불존재련쇄관계.결론 배제운남지구CDH가계치병기인위우22、7호염색체상.
Objective To investigate genetic linkage between the phenotype of congenital dislocation of the hip (CDH) and genes located in chromosome 22,7, and attempt initially process of the genome-wide scan for searching disease-susceptibility loci.Methods According to epidemiological data,we studied 4 kindred with CDH in yunna,which include 65 persons in 5 generations.the affected status of 17 individuals had been established on the basis of their clinical and radiological presentation of the disorder.44 blood specimens were collected from those members who could be followed trail, and their nucleus DNA was extracted from peripheral leukocytes as phenol method.35 Tetnuc or Trinuc repeat microsatellite markers exploited by CHLC were chosen.8 markers distributed on chromosome 22, and 10 markers distributed on 7chromosome with an average interval of 10 cm.Genimic DNA were amplified by PCR technique.The PCR products were subjected to vertical electrophoresis in PAGE gel with continous buffer system, followed by siliver staining.graphic analysis system was used to define each allele.Parametric linkage analysi using maximum likelihood estimation were computed by the linkage package for various recombination fraction valus, with a disease gene grequency of 0.02.Results 18 STR loci are showen to provide good discrimination power by highly polymorphism and heterozygosity.Gnotype dated were obtained and conformed to Mendel law.Linkage analysis with those markers gave minus two-point LOD score values (Z<1), which the markers in 22and 7 chromosome indicated that there no linkage between the markers and CDH gene in those pedigrees.Conclusions CDH susceptibility genes are not likely located on chromosome 22, 7.The approach to geno-wide scan using highly density STR markers would play an important role in map the gene responsible for CDH.