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Cytogenetic Investigations in Down Syndrome Children and MTHFR Gene Polymorphism in Their Mothers  


Abstract Category: Science
Course / Degree: M.Sc. Human Genetics
Institution / University: Guru Nanak Dev University, India
Published in: 2011


Dissertation Abstract / Summary:

Trisomy 21 is responsible for 95% Down syndrome cases and most common genetic cause of human mental retardation, with an incidence of 1-600/1-1000 live births. It is also responsible for premature pregnancy failure. It is a complex disease resulting from the presence of three copies of genes located on chromosome 21. The origin of the extra chromosome is maternal in 95% of cases and is due to failure of normal chromosomal segregation/ non-disjunction during meiosis I before oocyte maturation or meiosis II around the time of fertilization. Although advanced maternal age is a major risk factor for trisomy 21, most Down syndrome children are born to mothers This study is undertaken with the aim of finding out the prevalence of the MTHFR C677T polymorphism in mothers having Down syndrome children. Study was done on 15 cases comprising 30 blood samples for cytogenetic investigation (15 Down syndrome and 15 healthy controls) .Normal controls were chosen of same sex and age as that of subject for comparison of results. Samples were collected from referred cases to the Department of Human Genetics & Smt. Raj Rani Uppal charitable special school, Amritsar.

Diagnosis was made on the basis of physical features and clinical symptoms. A written consent was obtained from the subjects prior to sample collection. A detailed predesigned proforma was filled up for each subject and pedigree analysis was done. For cytogenetic analysis lymphocyte culturing was performed using Moorehead et al (1960) and modified according to lab conditions. Lymphocyte culturing was done using RPMI 1640 medium supplemented with phytohemagglutinin and Fetal Bovine Serum. Cell cycle was arrested at metaphase at 70 hrs by adding colcemid to the cultures. Cultures were harvested by giving treatment of hypotonic solution and Carnoy's fixative. Slides were prepared and GTG banding was performed using Trypsin and 10% Giemsa stain. Atleast 20 metaphases were scanned and 5 metaphases were karyotyped to confirm trisomy 21 using automated karyotype system by Cytovision. While for molecular analysis genomic DNA was isolated from mother’s blood and controls as given by Adeli and Ogboma, 1990. Polymorphism was analysed by PCR-RFLP method and statistical analysis was done.


Dissertation Keywords/Search Tags:
Down syndrome, MTHFR gene polymorphism, Folate metabolism

This Dissertation Abstract may be cited as follows:
(Priya, 2011)


Submission Details: Dissertation Abstract submitted by Priya Kashyap from India on 19-Apr-2011 17:09.
Abstract has been viewed 3418 times (since 7 Mar 2010).

Priya Kashyap Contact Details: Email: girlnamedpia@gmail.com



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