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Figure 1 | BMC Medical Genetics

Figure 1

From: A novel HSF4gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

Figure 1

Pedigree structure and linkage and restriction enzyme digest analysis of family BUIT-CA01 with autosomal recessive congenital cataracts. The marker alleles and haplotypes for three microsatellites covering the HSF4 locus on chromosome 16, are shown beneath the pedigree symbols. The location of markers according to NCBI build 36.1 is given in brackets behind the marker names (the HSF4 gene is located at 65, 754, 789–65, 761, 349 bp). An allele-specific restriction enzyme (HphI) digest demonstrates homozygous wild type alleles (648 bp and 148 bp) in individuals II:4 and III:3 and homozygous mutant alleles (403 bp, 248 bp and 148 bp) in the affected individuals IV:1, IV:2, IV:3, IV:4, IV:5, IV:6, IV:7 and IV:8, whereas the parents (III:1, III:2, III:4 and III:5) each carrying one WT and one mutant allele. M = 100 bp-ladder, H2O = PCR water control.

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