Discerning non-disjunction in down syndrome patients by means of GluK1-(AGAT) n and D21S2055-(GATA) n microsatellites on chromosome 21.

Simple item page
dc.contributor.authorGhosh, Debarati
dc.contributor.authorSinha, Swagata
dc.contributor.authorChatterjee, Anindita
dc.contributor.authorNandagopal, Krishnadas
dc.date.accessioned2012-11-21T10:34:53Z
dc.date.available2012-11-21T10:34:53Z
dc.date.issued2012-05
dc.description.abstractIntroduction: Down syndrome (DS), the leading genetic cause of mental retardation, stems from non-disjunction of chromosome 21. Aim: Our 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 Methods: We 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.en_US
dc.identifier.citationGhosh Debarati, Sinha Swagata, Chatterjee Anindita, Nandagopal Krishnadas. Discerning non-disjunction in down syndrome patients by means of GluK1-(AGAT) n and D21S2055-(GATA) n microsatellites on chromosome 21. Indian Journal of Human Genetics. 2012 May; 18(2): 204-216.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/143272
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2012;volume=18;issue=2;spage=204;epage=216;aulast=Debaratien_US
dc.subjectDown syndromeen_US
dc.subjectnon-disjunctionen_US
dc.subjectshort tandem repeat polymorphismen_US
dc.subjectpolymorphism information contenten_US
dc.subjectpower of discriminationen_US
dc.subject.meshChromosomes, Human, Pair 21 --genetics
dc.subject.meshDown Syndrome --genetics
dc.subject.meshFamily
dc.subject.meshGenotyping Techniques --methods
dc.subject.meshHumans
dc.subject.meshMicrosatellite Repeats --genetics
dc.subject.meshNondisjunction, Genetic --genetics
dc.subject.meshPolymorphism, Genetic --methods
dc.titleDiscerning non-disjunction in down syndrome patients by means of GluK1-(AGAT) n and D21S2055-(GATA) n microsatellites on chromosome 21.en_US
dc.typeArticleen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
ijhg2012v18n2p204.pdf
Size:
454.37 KB
Format:
Adobe Portable Document Format
Description:
Journal article
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Indian Journal of Human Genetics