遗传性泛发性色素异常症一家系致病基因的定位分析
发布时间：2018-12-08 09:59
【摘要】：【目的】精细定位遗传性泛发性色素异常症(Dyschromatosis universalis hereditaria, DUH)致病基因。 【方法】采用荧光微卫星标记对收集到的一个DUH家系进行连锁分析。在获得患者知情同意书后,进行现场调查并获取家系成员的外周血标本;在染色体6q24.2-q25.2区域选取3个荧光微卫星标记(D6S441, D6S308, D6S1581),在染色体12q21-q23区域选取8个荧光微卫星标记(D12S101, D12S81, D12S1598,D12S326, D12S1667, D12S346, D12S351, D12S1708),然后应用聚合酶链式反应(Polymerase chain reaction, PCR)得到各位点的扩增产物,再采用ABI3130遗传分析仪测定PCR产物片段大小。根据各产物片段大小的不同,得到每个样本的基因型。对基因型数据进行校对后,用连锁分析软件LINKAGE5.1计算每个标记的LOD值,根据两点间LOD值判断连锁关系。最后用Cyrillic软件进行单倍型分析确定致病基因连锁区域。 【结果】该家系在6号染色体上所选的3个微卫星标记的LODs值均小于-2。在12号染色体所选8个标记中D12S81,D12S1598的LOD值重组率在0.0时分别为2.25,1.37。单倍型分析将该家系致病基因定位于微卫星标记D12S1667与D12S351之间,遗传距离为2.9cM。 【结论】该DUH家系的致病基因位于微卫星标记D12S1667-D12S351间区域,物理位置为12q21.31-12q21.33,遗传距离为2.9cM。
[Abstract]:[objective] to pinpoint the (Dyschromatosis universalis hereditaria, DUH) pathogenicity gene of hereditary generalized dystrophy. [methods] A DUH pedigree was analyzed by fluorescence microsatellite markers. After obtaining the informed consent form of the patient, the field investigation was carried out and the peripheral blood samples of the family members were obtained. Three fluorescent microsatellite markers (D6S441, D6S308, D6S1581) were selected in the 6q24.2-q25.2 region of chromosome, and eight fluorescent microsatellite markers (D12S101, D12S81, D12S1598, D12S326, D12S1667, D12S346, D12S351, D12S1708) were selected in the region of chromosome 12q21-q23. The amplified products were obtained by polymerase chain reaction (Polymerase chain reaction, PCR) and the size of PCR products was determined by ABI3130 genetic analyzer. The genotypes of each sample were obtained according to the size of each product fragment. After proofreading the genotypic data, the linkage analysis software LINKAGE5.1 was used to calculate the LOD value of each marker, and the linkage relationship was judged according to the LOD value between two points. Finally, haplotype analysis with Cyrillic software was used to determine the linkage region of pathogenic genes. [results] the LODs values of the three microsatellite markers selected on chromosome 6 were less than -2. Among the 8 markers selected on chromosome 12, the LOD recombination rate of D12S81 and D12S1598 was 2.25 / 1.37 at 0.0, respectively. Haplotype analysis mapped the pathogenic gene between microsatellite marker D12S1667 and D12S351 with a genetic distance of 2.9 cm. [conclusion] the pathogenicity gene of this DUH family is located in the region between microsatellite marker D12S1667-D12S351, the physical location is 12q21.31-12q21.33, and the genetic distance is 2.9 cm.
【学位授予单位】：华中科技大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R758.5
本文编号：2368156
[Abstract]:[objective] to pinpoint the (Dyschromatosis universalis hereditaria, DUH) pathogenicity gene of hereditary generalized dystrophy. [methods] A DUH pedigree was analyzed by fluorescence microsatellite markers. After obtaining the informed consent form of the patient, the field investigation was carried out and the peripheral blood samples of the family members were obtained. Three fluorescent microsatellite markers (D6S441, D6S308, D6S1581) were selected in the 6q24.2-q25.2 region of chromosome, and eight fluorescent microsatellite markers (D12S101, D12S81, D12S1598, D12S326, D12S1667, D12S346, D12S351, D12S1708) were selected in the region of chromosome 12q21-q23. The amplified products were obtained by polymerase chain reaction (Polymerase chain reaction, PCR) and the size of PCR products was determined by ABI3130 genetic analyzer. The genotypes of each sample were obtained according to the size of each product fragment. After proofreading the genotypic data, the linkage analysis software LINKAGE5.1 was used to calculate the LOD value of each marker, and the linkage relationship was judged according to the LOD value between two points. Finally, haplotype analysis with Cyrillic software was used to determine the linkage region of pathogenic genes. [results] the LODs values of the three microsatellite markers selected on chromosome 6 were less than -2. Among the 8 markers selected on chromosome 12, the LOD recombination rate of D12S81 and D12S1598 was 2.25 / 1.37 at 0.0, respectively. Haplotype analysis mapped the pathogenic gene between microsatellite marker D12S1667 and D12S351 with a genetic distance of 2.9 cm. [conclusion] the pathogenicity gene of this DUH family is located in the region between microsatellite marker D12S1667-D12S351, the physical location is 12q21.31-12q21.33, and the genetic distance is 2.9 cm.
【学位授予单位】：华中科技大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R758.5
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相关期刊论文 前3条
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