CAJ | 학술논문

目的对一个汉族精神分裂症高发家系进行全基因组连锁分析,对易感基因进行定位.方法抽取受试者外周血4 mL,用常规酚氯仿法提取基因组DNA,选择Illumina Infinium Linkage-24 BeadChips芯片对样本进行单核苷酸多态性检测及分型.用Illumina BeadStudio软件处理原始数据后,对分型结果应用Merlin软件进行两点非参数连锁分析和两点参数连锁分析.结果用Merlin软件进行两点非参数连锁分析,共发现27个连锁值较高的位点(连锁值在0.63～0.75之间,P＜0.05),其中3个单核苷酸多态性(rs993694、rs992690、rs1861577)位于12p12.3区,剩余的位点均位于4p12-q22区.在显性模型下的两点参数连锁分析得到了几乎一致的结果.结论染色体4p12-q22区以及12p12.3区可能包含精神分裂症的易感基因.
목적 대일개한족정신분렬증고발가계진행전기인조련쇄분석,대역감기인진행정위.방법 추취수시자외주혈4 mL,용상규분록방법제취기인조DNA,선택Illumina Infinium Linkage-24 BeadChips심편대양본진행단핵감산다태성검측급분형.용Illumina BeadStudio연건처리원시수거후,대분형결과응용Merlin연건진행량점비삼수련쇄분석화량점삼수련쇄분석.결과 용Merlin연건진행량점비삼수련쇄분석,공발현27개련쇄치교고적위점(련쇄치재0.63～0.75지간,P＜0.05),기중3개단핵감산다태성(rs993694、rs992690、rs1861577)위우12p12.3구,잉여적위점균위우4p12-q22구.재현성모형하적량점삼수련쇄분석득도료궤호일치적결과.결론 염색체4p12-q22구이급12p12.3구가능포함정신분렬증적역감기인.
Objective To perform genome wide linkage analysis for an ethnic Han Chinese pedigree with schizophrenia in order to locate the susceptibility genes.Methods Genomic DNA was extracted from 4 mL of peripheral blood using conventional phenol chloroform method.Illumina Infinium Linkage-24 BeadChips chip was used for determining the genotypes through detection of single nucleotide polymorphisms (SNPs).After processing the raw data using Illumina BeadStudio software,two-point nonparametric linkage analysis and two-point parametric linkage analysis were performed with Merlin software.Results By two-point nonparametric linkage analysis,27 sites with high LOD scores (LOD=0.63～0.75,P＜0.05) were identified.Among these,3 SNPs (rs993694,rs992690 rs1861577) are located in 12p12.3 region,whilst the remainders were located in 4p12 q22 region.Two-point parametric linkage analysis under a dominant model has yielded almost identical results.Conclusion Chromosomal regions 4p12 q22 and 12p12.3 probably contain susceptibility genes for schizophrenia.