CAJ | 학술논문

目的对收集的广东汉族白癜风38家系183人进行基因精细定位，以期识别白癜风的致病基因。方法收集白癜风患者及其家系成员的临床资料及血液样本，抽提外周血基因组DNA,选用荧光标记引物及微卫星标记，用Genescan和Genotyper软件进行基因分型，用Linkage软件包进行连锁分析，明确致病基因的区域，并对6P21-22进行精细定位。结果定位结果发现白癜风致病基因与微卫星标记D6s289-D6S1584处获得最大连锁值(NPL=4.74,P=0.000023,HLOD=3.99,α=42％)。结论染色体6P21-22上可能存在广东汉族人的白癜风易感基因。
목적 대수집적엄동한족백전풍38가계183인진행기인정세정위，이기식별백전풍적치병기인。방법 수집백전풍환자급기가계성원적림상자료급혈액양본，추제외주혈기인조DNA,선용형광표기인물급미위성표기，용Genescan화Genotyper연건진행기인분형，용Linkage연건포진행련쇄분석，명학치병기인적구역，병대6P21-22진행정세정위。결과 정위결과 발현백전풍치병기인여미위성표기D6s289-D6S1584처획득최대련쇄치(NPL=4.74,P=0.000023,HLOD=3.99,α=42％)。결론 염색체6P21-22상가능존재엄동한족인적백전풍역감기인。
Objective To identify the disease-causing gene for vitiligo in 163 members of 38 Chinese Han family in Guangdong area. Methods The clinical data and peripheral blood samples were collected from patients with vitiligo and their family members. Genomic DNA was extracted from the blood samples. A genome-wide scan was performed using primers labelled with fluorescent stain. The sequencing results and microsatellite markers were analyzed by the Genescan and Genotype. Linkage analysis was conducted by the Linkage software to define the region of the disease-causing gene. Results The maximum linkage value was found at the disease-causing gene with microsatellite marker D6s289-D6S1584 ( NPL = 4.74, P= 0.000023, HLOD = 3.99, and α = 42％ ).Conclusion The susceptibily gene for vitiligo gene may locate at the chromosome 6P21-22 in Guangdong Han population.