一个中国汉族精神分裂症高发家系的全基因组连锁分析

Genome-wide linkage scan for an ethnic Han Chinese pedigree affected with schizophrenia

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4mL，用常规酚氯仿法提取基因组DNA，选择IlluminaInfiniumI．inkage-24BeadChips芯片对样本进行单核苷酸多态性检测及分型。用IlluminaBeadStudio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个单核背酸多态性（rs993694、rs992690、rsl861577）位于12p12．3区，剩余的位点均位于4p12q22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4p12q22区以及12p12．3区可能包含精神分裂症的易感基冈。

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.