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  Indian J Med Microbiol
 

Figure 1: Screening the p.Gly2019Ser variant (c.6055G>A) in the leucine-rich repeat kinase 2 (LRRK2) gene and rs2421947 (G>C) of DNM3 in a family affected with Parkinson's disease. (A) The upper panel represents a three-generation pedigree showing age and sex of each individual. The filled symbols indicate symptomatic LRRK2 mutants; the arrow indicates the proband and a black circle within a square indicates an asymptomatic male harbouring the mutant allele. Both the current age and age at onset (in parenthesis) are given for the proband. (B) Segregation pattern of the LRRK2 variant allele in family members, as represented by Pst I digested polymerase chain reaction products, separated by polyacrylamide gel electrophoresis. Genotypes of the index case and family members are shown. (C) Genotyping details of rs2421947 of DNM3 in family members as represented by Alw NI digested polymerase chain reaction (PCR) products, separated as above. Lane U, undigested PCR product; lane M, 50 bp DNA ladder molecular weight marker. The sizes of the digested DNA fragments and their molecular weights are shown on the right and left side of the gels, respectively. (D) Chromatograms of the DNA sequence from the patient (II-2) showing the heterozygous condition of c.6055G>A of LRRK2 and the homozygous 'wild' genotype of the mother (I-2).

Figure 1: Screening the p.Gly2019Ser variant (c.6055G>A) in the leucine-rich repeat kinase 2 (<i>LRRK2</i>) gene and rs2421947 (G>C) of <i>DNM3</i> in a family affected with Parkinson's disease. (<b>A</b>) The upper panel represents a three-generation pedigree showing age and sex of each individual. The filled symbols indicate symptomatic <i>LRRK2</i> mutants; the arrow indicates the proband and a black circle within a square indicates an asymptomatic male harbouring the mutant allele. Both the current age and age at onset (in parenthesis) are given for the proband. (<b>B</b>) Segregation pattern of the <i>LRRK2</i> variant allele in family members, as represented by <i>Pst</i> I digested polymerase chain reaction products, separated by polyacrylamide gel electrophoresis. Genotypes of the index case and family members are shown. (<b>C</b>) Genotyping details of rs2421947 of<i> DNM3</i> in family members as represented by <i>Alw</i> NI digested polymerase chain reaction (PCR) products, separated as above. Lane U, undigested PCR product; lane M, 50 bp DNA ladder molecular weight marker. The sizes of the digested DNA fragments and their molecular weights are shown on the right and left side of the gels, respectively. (<b>D</b>) Chromatograms of the DNA sequence from the patient (II-2) showing the heterozygous condition of c.6055G>A of <i>LRRK2</i> and the homozygous 'wild' genotype of the mother (I-2).