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Egyptian Journal of Medical Human Genetics
Fig. 1 | Egyptian Journal of Medical Human Genetics

Fig. 1

From: A cost-effective method for detecting mutations in the human FAM111B gene associated with POIKTMP syndrome

Fig. 1

a PCR–RFLP genotyping of the South Africa family with the FAM111B heterozygous [NM_198947.4: c.1861T>G (p. Tyr621Asp)] gene mutation at exon 4. Lanes 1: 100 bp DNA ladder (NEB, USA), 2: Familiar control (WT i.e., unaffected mother), 3: unrelated control (WT), 4: POIKTMP (mutant) affected family member, 5: a second POIKTMP affected family member. The expected band sizes: WT (i.e., T/T genotype) = 740 and 345 bp, and heterozygous mutant (i.e., T/G) = 1085, 740 and 345 bp. b Pedigree analysis of the family. c The description of the location of the mutation of interest reported in the patients

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