Klinefelter's Syndrome Research Paper
Molecular Diagnostics of Klinefelter Syndrome
Submitted to:
Tarana Sharmin
Lecturer
Department of Genetic Engineering &
Biotechnology
Authored by: Hasan Al Reza
Roll: 10
Session: 2011-2012
Department of Genetic Engineering &
Biotechnology
University of Dhaka
Date: 19th April, 2015
Klinefelter Syndrome
Klinefelter’s Syndrome (KS) also known as 47, XXY is a sex chromosomal abnormality. It is a form of aneuploidy whereby the male patient has an extra X chromosome. The primary hallmark of the disease is male sexual sterility. The symptoms are sometimes subtle and only discovered late into adolescence. Some symptoms become prominent after puberty such as hypogonadism, development of breasts, less body hair, weaker muscles, poor muscle co-ordination, greater height, and loss of sexual drive. The intelligence of the patient is however not affected.
KS is not an inheritable disease. It is caused by an error in the process of meiotic cell division called non-disjunction. As a result the father’s sperm
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They mostly involve sophisticated machinery and staining techniques that have high-throughput results.
A. QF-PCR: Quantitate Fluorescent Polymerase Chain Reaction involves detection of chromosome specific DNA sequences known as genetic markers or short tandem repeats (STRs). It involves the use of primers labeled with fluorescent tags for PCR amplification of individual markers and the copy number of each marker is indicative of the copy number of the chromosome. The resulting PCR products may be analyzed and quantified using an automated genetic analyzer.
The genetic markers may vary in length across individual patients and chromosomes, depending on the no. of markers. The relative copy no. of each allele is determined by calculating the ration of the peak heights or area under the peaks detected for each
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