【摘要】：【目的】精細(xì)定位遺傳性泛發(fā)性色素異常癥(Dyschromatosis universalis hereditaria, DUH)致病基因。 【方法】采用熒光微衛(wèi)星標(biāo)記對(duì)收集到的一個(gè)DUH家系進(jìn)行連鎖分析。在獲得患者知情同意書后,進(jìn)行現(xiàn)場調(diào)查并獲取家系成員的外周血標(biāo)本;在染色體6q24.2-q25.2區(qū)域選取3個(gè)熒光微衛(wèi)星標(biāo)記(D6S441, D6S308, D6S1581),在染色體12q21-q23區(qū)域選取8個(gè)熒光微衛(wèi)星標(biāo)記(D12S101, D12S81, D12S1598,D12S326, D12S1667, D12S346, D12S351, D12S1708),然后應(yīng)用聚合酶鏈?zhǔn)椒磻?yīng)(Polymerase chain reaction, PCR)得到各位點(diǎn)的擴(kuò)增產(chǎn)物,再采用ABI3130遺傳分析儀測定PCR產(chǎn)物片段大小。根據(jù)各產(chǎn)物片段大小的不同,得到每個(gè)樣本的基因型。對(duì)基因型數(shù)據(jù)進(jìn)行校對(duì)后,用連鎖分析軟件LINKAGE5.1計(jì)算每個(gè)標(biāo)記的LOD值,根據(jù)兩點(diǎn)間LOD值判斷連鎖關(guān)系。最后用Cyrillic軟件進(jìn)行單倍型分析確定致病基因連鎖區(qū)域。 【結(jié)果】該家系在6號(hào)染色體上所選的3個(gè)微衛(wèi)星標(biāo)記的LODs值均小于-2。在12號(hào)染色體所選8個(gè)標(biāo)記中D12S81,D12S1598的LOD值重組率在0.0時(shí)分別為2.25,1.37。單倍型分析將該家系致病基因定位于微衛(wèi)星標(biāo)記D12S1667與D12S351之間,遺傳距離為2.9cM。 【結(jié)論】該DUH家系的致病基因位于微衛(wèi)星標(biāo)記D12S1667-D12S351間區(qū)域,物理位置為12q21.31-12q21.33,遺傳距離為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.
【學(xué)位授予單位】：華中科技大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2010
【分類號(hào)】：R758.5

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本文編號(hào)：2368156