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Updated: May 13, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
[Genome-wide linkage scan for an ethnic Han Chinese pedigree affected with schizophrenia]
Lian-sheng Zhao1, Ying-cheng Wang, Jin-xue Wei
1Department of Psychiatry, Sichuan University, Chengdu, Sichuan, People's Republic of China.
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 U+003C 0.05) were identified. Among these, 3 SNPs(rs993694, rs992690 rs1861577) were 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.
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