Allelic expression of
gene. (A) schematic diagram of the structure of the TIMP2 gene region, including its 5 exons (grey bars) and transcription start site (TSS). Important genomic features, including the copy number variation (CNV) identified in the recurrent miscarriage family, and a polymorphic coding single nucleotide polymorphism (SNP) used to assess TIMP2 allelic expression have been labelled. (B) Percentage gene expression of the major allele for rs2277698 in exon 3 of TIMP2 gene in informative chorionic villi from 1st trimester elective terminations (ET) and miscarriages from recurrent miscarriage family 06. Miscarriage 06-3C and 06-3D had the CNV while miscarriage 06-3E did not.