Dr Jianghai Lin

Evidence has shown that endometriosis is a complex disorder, although it is still unclear which genetic variants underlie susceptibility to this condition. Linkage analysis conducted by our group and colleagues, Dr Grant Montgomery (QIMR, Australia), in Caucasian populations (1,176 families) have identified two chromosome regions, 7p13-15 and 10q26, that might harbour genetic variants increasing susceptibility to endometriosis. The linkage signal on chromosome 7 suggested the influence of one or more rare genetic variants with near-Mendelian inheritance. Further analysis on an extended pedigree of rhesus macaques with spontaneous endometriosis also showed significant linkage to the same region orthologous to human chromosome 7.

To try and identify the underlying rare variants, my current work involves conducting a resequencing study targeting a 5Mb region on chromosome 7, to which the signal was narrowed down after haplotype analysis. Eight women with endometriosis from the families most contributing to the signal were selected for the study. Genomic DNA of the target region was captured and enriched using an array based technique from Nimblegen, and sequenced using Roche 454 Genome Sequencing platform.

Publications

2009

Lin J, Kennedy SH, Svarovsky T, Rogers J, Kemnitz JW, Xu A, Zondervan KT. High Quality Genomic DNA Extraction from Formalin-Fixed and Paraffin-Embedded Samples Deparaffinised Using Mineral Oil. (2009). Analytical Biochemistry. 395(2):265-7.PMID: 19698695

2007

Zondervan KT, Treloar SA, Lin J, Weeks DE, Nyholt DR, Mangion J, MacKay IJ, Cardon LR, Martin NG, Kennedy SH, Montgomery GW. Significant evidence of one or more susceptibility loci for endometriosis with near-Mendelian inheritance on chromosome 7p13-15. (2007). Hum Reprod. 22(3):717-28.PMID: 17158817