ArticleIndian journal of human genetics2012
Discerning non-disjunction in Down syndrome patients by means of GluK1-(AGAT)(n) and D21S2055-(GATA)(n) microsatellites on chromosome 21.
Article in Indian journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionDown syndrome (DS), the leading genetic cause of mental retardation, stems from non-disjunction of chromosome 21.
aimOur aim was to discern non-disjunction in DS patients by genotyping GluK1-(AGAT)(n) and D21S2055-(GATA)(n) microsatellites on chromosome 21 using a family-based study design. MATERIALS AND
methodsWe have used a PCR and automated DNA sequencing followed by appropriate statistical analysis of genotype data for the present study RESULTS AND DISCUSSION: We show that a high power of discrimination and a low probability of matching indicate that both markers may be used to distinguish between two unrelated individuals. That the D21S2055-(GATA)(n) allele distribution is evenly balanced, is indicated by a high power of exclusion [PE=0.280]. The estimated values of observed heterozygosity and polymorphism information content reveal that relative to GluK1-(AGAT)(n)[H(obs)=0.286], the D21S2055- (GATA)(n)[H(obs)=0.791] marker, is more informative. Though allele frequencies for both polymorphisms do not conform to Hardy-Weinberg equilibrium proportions, we were able to discern the parental origin of non-disjunction and also garnered evidence for triallelic (1:1:1) inheritance. The estimated proportion of meiosis-I to meiosis-II errors is 2:1 in maternal and 4:1 in paternal cases for GluK1-(AGAT)(n), whereas for D21S2055-(GATA)(n), the ratio is 2:1 in both maternal and paternal cases. Results underscore a need to systematically evaluate additional chromosome 21-specific markers in the context of non-disjunction DS.
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