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2002| January-June | Volume 8 | Issue 1
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Chronic myeloid leukemia: Cytogenetics and molecular genetics
Pratibha S Amare
January-June 2002, 8(1):4-10
Image analysis system and its use in cytogenetic analysis
Md. Equebal Ahmad, Kiran Kucheria
January-June 2002, 8(1):15-19
Cytogenetic analysis is an important tool in the diagnosis of genetic disorders. It involves cell culture, metaphase arrest, hypotonic treatment, cell fixation, slide preparation and use of banding methods. Following the banding, analysis is done by taking photomicrographs of the metaphase spreads and developing and printing the film in the dark room. Individual chromosomes are then manually cut, paired, pasted and a karyotype is made. This whole procedure is time consuming, labour intensive and expensive. With the increasing workload of the cytogenetic laboratories and availability of improved computer capabilities for image processing, the Image Analysing System, with appropriate software, are being used for cytogenetic analysis. The system includes a high resolution research microscope with or without an automatic metaphase scanning stage, charged couple device (CCD) camera and computer with special software for image capturing, chromosome counting, automatic karyotyping etc. The system is connected to an ordinary inkjet/laser printer. The present paper deals with our experience of one year on use of image analysis system in routine cytogenetic analysis which has cut down the cost and time of karyotyping and analysis by non use of photographic film, developing, printing and dark room facilities. Hence provides reports to the patients with karyotypes using ordinary paper in one hour only. The most important is that this system has made storing and retrieval of data very easy.
Fluorescence in situ hybridization analysis of balanced t (8;22) (q24.3;q12.2) in a female with recurrent spontaneous abortions
Babu Rao Vundinti, Lily kerketta, Seema Korgaonkar, Kanjaksha Ghosh, Dipika Mohanty
January-June 2002, 8(1):32-33
Catching up with the progress…..
January-June 2002, 8(1):3-3
NEWS AND VIEWS
XIII International congress of histocompatibility and immunogenetics (2002)
January-June 2002, 8(1):34-35
Detection of human aneuploidies in prenatal and postnatal diagnosis using molecular cytogenetics
Kiran Kucheria, Vaidehi Jobanputra, Rashmi Talwar, ME Ahmed, Rima Dada, TA Sivakumaran
January-June 2002, 8(1):11-14
Chromosomal aneuploidies especially trisomies 13, 18, 21, monosomy X and 47, XXY account for up to 95% of live born cytogenetic abnormalities. The diagnosis of aneuploidies usually done by conventional cytogenetic analysis (CCA) is associated with technical difficulties and requires about 1-3 weeks for providing a result, especially in prenatal diagnosis. In the present study, Fluorescence In Situ Hybridization (FISH) was used on interphase cells for rapid prenatal and postnatal detection of aneuploidies. The frequent indications of high pregnancies included for prenatal diagnosis were previous child with chromosomal abnormalities, abnormal ultrasound scan and advanced maternal age (> 35 years). Interphase FISH was done using probes specific for chromosomes 13, 18, 21, X and Y on uncultured chorionic villi and amniotic fluid samples. All samples were analyzed subsequently using conventional cytogenetics. The analysis of aneuploidies for chromosomes 13, 15, 16, 18, 21, 22, X and Y using FISH was extended to abortuses from spontaneous abortion cases. In cases where cytogenetics was not informative, a diagnosis could be made using interphase FISH. For postnatal diagnosis, interphase FISH was done to confirm low-level mosaicism in patients with primary amenorrhea, suspected cases of Klinefelter syndrome, and mental retardation using probes specific for various autosomes, X and Y chromosomes. FISH was also done using probe specific for the sex-determining region (SRY) on the Y chromosome in cases with ambiguous genitalia. The SRY region could be identified in cases that lacked the Y chromosome on conventional cytogenetic analysis thereby emphasizing on the high resolution of FISH technique in detecting sub-microscopic rearrangements. To conclude, interphase FISH decreases the time interval between sampling and diagnosis. This is of tremendous value in prenatal diagnosis of urgent high-risk pregnancies, management of ambiguous genitalia and low-level mosaicism where result can be obtained within 24 hours.
Spermatogenic alterations in men with high testiculo epididymal temperatures
Rima Dada, NP Gupta, K Kucheria
January-June 2002, 8(1):20-25
Sperms are produced by a highly complex and poorly understood differentiation process known as spermatogenesis. Occupational exposure to high temperatures adversely affect testicular function causing partial or complete spermatogenic arrest. Dyers, cooks, blast furnace workers and men with varicocele are known to develop testicular hyperthermia, which leads to oligoasthenoteratozoospermia (OAT) and azoospermia. Semen analysis of 125 infertile men (and 25 fertile controls following the WHO guidelines, 1999 showed azoospermia in 109 men and oligozoospermia in 16 men. Twenty azoospermic and 14 oligozoospermic men had high testiculoepididymal temperatures either due to occupational exposure to high temperature or varicocele. All the 14 oligozoospermic men showed a very high percentage of sperms with abnormal morphology, impaired motility and they were subclassified as OAT group. Observations made in this study reiterates that high intratesticular temperature causes partial or complete spermatogenic arrest and may lead to increased production of morphologically abnormal sperms with impaired motility. This inverse relationship of sperm function with elevated temperature has implications in clinical medicine both in understanding pathological states and for therapeutic measures.
Study of some genetic markers in sishta karanam population, Andhra Pradesh, India
VM Naidu, Ramesh M, TV Rao, P Veerraju
January-June 2002, 8(1):26-28
A total of 76 individuals belonging to Sishta Karanam population, Andhra Pradesh, were tested for polymorphism in ABO and Rh (D) blood groups, two serum proteins, Haptoglobin and Ceruloplasmin, and one red cell enzyme, Glyoxalase-I. All the systems except Caeruloplasmin showed polymorphism. The frequency of AB phenotype is found to be highest in the Sishta Karanam when compared to the other caste populations of Andhra Pradesh so far studied. It was observed that the ABO system was not in Hardy-Weinberg Equillibrium. The Hp1-1 phenotype was absent in this population. The Glyoxalase-I locus showed all the 3 phenotypes.
Blood group and serum protein polymorphisms in turpu kapu population of vizianagaram district, Andhra Pradesh
Komal Madhavi V, Ramesh M, TV Rao, Veerraju P
January-June 2002, 8(1):29-31
Data on two blood group and three serum protein polymorphisms of the Turpu Kapu, an endogamous population of Vizianagaram District, Andhra Pradesh (AP) is presented. The gene frequencies for the blood group systems ABO and Rh are within the ranges of distribution reported earlier among the caste populations of Andhra Pradesh. The study population shows highest frequency of Hp1 allele and the lowest frequency of Hp2 allele compared to the other populations of AP. The Cp system is monomorphic, all individuals being the BB type. The GC system exhibits polymorphism with the gene frequencies of GC1 and GC2 alleles showing the highest and lowest frequencies, respectively, as compared to the caste populations reported earlier. The c2 test suggest that this population is in Hardy-Weinberg Equilibrium.
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