BIOMAT Database Logo BIOMAT Database Logo

Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies. 2012

Shalu Jain, and Inusha Panigrahi, and Rekha Gupta, and Shubha R Phadke, and Sarita Agarwal
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

Quantitative fluorescent polymerase chain reaction (QF-PCR) is a well-established method in Western countries where commercial kits are being used for rapid prenatal diagnosis of aneuploidies. The limitations of these kits are that these are basically designed for the Caucasian population and are very expensive. Thus there is an urgent need to investigate the informative markers in the Asian population and to develop indigenous informative markers for detection of aneuploidies. This is a cost-effective alternate to the commercial kits and can be easily used in developing countries. We have tested three STR markers (D21S1435, D21S11, and D21S1411) in confirmed cases of Down syndrome and their parents. Origin of nondisjunction was also determined by means of QF-PCR. All the Down syndrome cases were confirmed for trisomy 21 by STR analysis. The results matched 100% with the karyotyping results. Nondisjunction was maternal in 87.5% cases and paternal in 12.5% cases. Nondisjunction during meiosis I was responsible for 87.5% cases of maternal nondisjunction and 100% cases of paternal nondisjunction. The combination of three STR markers is highly informative and can be used for diagnosis of trisomy 21 in India.

UI MeSH Term Description Entries
D007194 India A country in southern Asia, bordering the Arabian Sea and the Bay of Bengal, between Burma and Pakistan. The capitol is New Delhi. Republic of India
D008297 Male Males
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011248 Pregnancy Complications Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases. Adverse Birth Outcomes,Complications, Pregnancy,Adverse Birth Outcome,Birth Outcome, Adverse,Complication, Pregnancy,Outcome, Adverse Birth,Pregnancy Complication
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D003906 Developing Countries Countries in the process of change with economic growth, that is, an increase in production, per capita consumption, and income. The process of economic growth involves better utilization of natural and human resources, which results in a change in the social, political, and economic structures. LMICs,Less-Developed Countries,Low Income Countries,Low and Middle Income Countries,Lower-Middle-Income Country,Middle Income Countries,Third-World Countries,Under-Developed Countries,Developing Nations,Least Developed Countries,Less-Developed Nations,Third-World Nations,Under-Developed Nations,Countries, Middle Income,Countries, Third-World,Country, Least Developed,Country, Less-Developed,Country, Low Income,Country, Lower-Middle-Income,Country, Middle Income,Country, Third-World,Country, Under-Developed,Developed Country, Least,Developing Country,Developing Nation,Least Developed Country,Less Developed Countries,Less Developed Nations,Less-Developed Country,Less-Developed Nation,Low Income Country,Lower Middle Income Country,Lower-Middle-Income Countries,Middle Income Country,Nation, Less-Developed,Nation, Third-World,Nation, Under-Developed,Third World Countries,Third World Nations,Third-World Country,Third-World Nation,Under Developed Countries,Under Developed Nations,Under-Developed Country,Under-Developed Nation
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260 Female Females
D005453 Fluorescence The property of emitting radiation while being irradiated. The radiation emitted is usually of longer wavelength than that incident or absorbed, e.g., a substance can be irradiated with invisible radiation and emit visible light. X-ray fluorescence is used in diagnosis.
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome

Related Publications

Shalu Jain, and Inusha Panigrahi, and Rekha Gupta, and Shubha R Phadke, and Sarita Agarwal
Prenatal diagnosis of common aneuploidies using multiplex quantitative fluorescent polymerase chain reaction.
January 2004, Fetal diagnosis and therapy,
Shalu Jain, and Inusha Panigrahi, and Rekha Gupta, and Shubha R Phadke, and Sarita Agarwal
Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies.
February 2011, Genetics in medicine : official journal of the American College of Medical Genetics,
Shalu Jain, and Inusha Panigrahi, and Rekha Gupta, and Shubha R Phadke, and Sarita Agarwal
Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction.
December 1997, Prenatal diagnosis,
Shalu Jain, and Inusha Panigrahi, and Rekha Gupta, and Shubha R Phadke, and Sarita Agarwal
Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies.
October 2001, Molecular human reproduction,
Shalu Jain, and Inusha Panigrahi, and Rekha Gupta, and Shubha R Phadke, and Sarita Agarwal
Rapid prenatal detection of aneuploidies by fluorescent polymerase chain reaction.
May 1998, American journal of obstetrics and gynecology,
Shalu Jain, and Inusha Panigrahi, and Rekha Gupta, and Shubha R Phadke, and Sarita Agarwal
Rapid diagnosis of common aneuploidies by quantitative fluorescent polymerase chain reaction.
January 1999, Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi,
Shalu Jain, and Inusha Panigrahi, and Rekha Gupta, and Shubha R Phadke, and Sarita Agarwal
Rapid detection of fetal aneuploidies by quantitative fluorescent-polymerase chain reaction for prenatal diagnosis in the Turkish population.
June 2012, Balkan journal of medical genetics : BJMG,
Shalu Jain, and Inusha Panigrahi, and Rekha Gupta, and Shubha R Phadke, and Sarita Agarwal
[Expert concensus on quantitative fluorescent polymerase chain reaction in the prenatal diagnosis of aneuploidies].
May 2016, Zhonghua fu chan ke za zhi,
Shalu Jain, and Inusha Panigrahi, and Rekha Gupta, and Shubha R Phadke, and Sarita Agarwal
Rapid prenatal diagnosis of common aneuploidies in amniotic fluid using quantitative fluorescent polymerase chain reaction.
January 2008, Gynecologic and obstetric investigation,
Shalu Jain, and Inusha Panigrahi, and Rekha Gupta, and Shubha R Phadke, and Sarita Agarwal
Toward optimal detection of the common prenatal aneuploidies by quantitative fluorescent-polymerase chain reaction: comparison of two commercial assays.
August 2012, Genetic testing and molecular biomarkers,
Copied contents to your clipboard!