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Doshi D.D.,Ashok and Rita Patel Institute of Integrated study | Shah D.B.,Ashok and Rita Patel Institute of Integrated study | Singh K.M.,Xcelris Labs Ltd | Patel R.K.,Sandor Animal Biogenics Pvt Ltd
Genetika | Year: 2015

Many of the previous studies indicated that the I/D polymorphism of ACE gene is associated with diabetes type-2. To validate the association of I/D polymorphism in ACE gene, a study was designed in non-diabetic (normal) and diabetic type-2 patients of unrelated Gujarati population. The random blood samples from 36 normal and 36 diabetic type -2 patients of above 45 years were collected for the studies. DNA was extracted from blood samples for PCR by using ACE specific primers. The gene and genotype frequencies were estimated for different alleles observed in diabetic as well as in normal healthy persons. In present study, all three genotypes that is, I/I (477bp), I/D (477/190bp), D/D (190bp) were observed in samples from normal and diabetic patients. Among all genotypes ID (58.3%) has maximum genotypic frequency in diabetic than Non diabetic individuals (44.4%), frequency of II (27.7%) is more in Non diabetic individuals than Diabetic individuals (19.4%) and genotypic frequency of DD (27.7%) is more in Non diabetic than Diabetic individuals (22.22%). The results were not in agreement with so many previous studies. However, recent findings of other studies conducted in different ethnic groups are similar to our findings which do not support that I/D polymorphism are associated with type-2 diabetes. Source


Patel R.K.,Sandor Animal Biogenics Pvt Ltd | Patel A.K.,Central Sheep and Wool Research Institute
Current Trends in Biotechnology and Pharmacy | Year: 2014

Holstein Friesian (HF) are high yielding animals therefore, dominates the global dairy industry. Because of merits of the breed, the Holsteins were extensively used for crossbreeding programmes in India. The availability of the bovine genome sequence and the advent of DNA technologies have widened our understanding for hereditary diseases in cattle and their early diagnosis. Some of autosomal recessive disorders are Holstein specific. The present review article describes prevalence of the most important autosomal recessive disorders in Indian Holstein and its crossbreds as compared to their occurrence worldwide. Mainly five disorders; BLAD (Bovine Leukocyte Adhesion Deficiency), DUMPS (Deficiency of Uridine Monophosphate Synthase), Bovine Citrullinaemia, CVM (Complex Vertebral Malformation) and FXI (Factor XI deficiency syndrome), are being screened in Indian cattle with the major objective to reduce the incidence of genetic disorders in cattle population and reduce the economic losses to the organized farms. Precisely, genetic disorders cause physical or functional anomalies with negative impact on viability. The old adage that prevention is better than cures is pertinent. Source


Kotikalapudi R.,Sandor Lifesciences Pvt. Ltd | Patel R.K.,Sandor Animal Biogenics Pvt Ltd | Kushwah R.S.,Sandor Lifesciences Pvt. Ltd | Sunkara P.S.S.,Sandor Lifesciences Pvt. Ltd
Genetika | Year: 2014

The autosomal recessive genetic disorders are regularly investigated especially in Indian Holstein and Holstein Crossbred bulls before they entered in semen collection so that a defective gene should not be transmitted to future generations. Bovine citrullinaemia first reported in Australia is a metabolic disorder as one of the enzymes, Argininosuccinate synthetase (ASS) involved in urea cycle is impaired in function. The mutation responsible for citrullinemia has been characterized as a single-base substitution at 256bp (C>T) in coding exon 3 of argininosuccinate synthetase 1 (ASS1) gene, which converts the CGA (arginine) at 86 codon to TGA (stop codon). A Holstein bull during routine molecular screening was found to be carrier for Citrullinaemia that was confirmed by sequencing. This is a fresh case of Citrullinaemia carrier in addition to three cases reported earlier in India. Partial sequencing of coding exon 3 of a normal Holstein revealed a new silent polymorphism at 240bp position that does not change amino acid (Sarine AGC>AGT) at 80 codon within exon 3 of ASS1 gene. The sequence of exon 3 of ASS1 gene in a normal Holstein exhibiting a new polymorphism was submitted to NCBI with accession No. KF933365. The presence of citrullinaemia carriers in Indian Holstein, though in very low frequency, emphasizing to continue the investigation of mutant gene in cattle population. Source


Patel R.K.,Sandor Animal Biogenics Pvt Ltd | Patel A.K.,Central Sheep and Wool Research Institute
Current Trends in Biotechnology and Pharmacy | Year: 2014

Animal clinical Cytogenetics started during 1960s. The majority of laboratories in India and abroad developed and started cytogenetic screening of cattle and buffaloes during last 5 decades which was parallel to human Cytogenetics. These laboratories were created almost exclusively within academic research institutions with a focus on basic research worldwide. However, a Cytogenetic screening programme in India was launched by the apex body, the National Dairy Development Board responsible for dairy development and animal improvement programmes during 1990s. Reduced fertility and infertility are major concern in dairy animals in India which could be due to poor breeding, feeding and management. However, it could also be due to chromosomal aberrations. Chromosomal aberrations might be transmitted or spontaneous generated during mitotic or meiotic cell divisions. Therefore, complete eradication of chromosomal aberrations from the dairy animal population may not be possible. In view of this the regular chromosomal screening especially of breeding bulls at the early age ought to be done This practice will not only reduce the occurrence of chromosomal abnormalities in dairy animal population rather it will save the time and amount spent on rearing of abnormal animals. Various kind of structural and numerical chromosomal abnormalities have been reported in India which is very less as compared to reported elsewhere. The chromosomal aberrations are reported mainly by conventional methods (banding of chromosomes) by which it is difficult to detect microdeletion, microduplication, microshiting translocation of minute fragments of chromosomes. The new molecular technologies like probe based fluorescence in situ hybridization (FISH) and microarray may be applied to detect minor abnormalities so that they can be correlated with infertility problems. Source


Shah D.B.,Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied science | Doshi D.D.,Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied science | Singh K.M.,Xcelris Labs Ltd | Patel R.K.,Sandor Animal Biogenics Pvt Ltd
Research Journal of Pharmaceutical, Biological and Chemical Sciences | Year: 2015

Vitamin D receptor (VDR) polymorphism influences susceptibility to type- 1diabetes, but the association with type 2 diabetes is not clear. A small group comprising 33 males and 24 females out of which 34 diabetic patients and 23 normal individual from unrelated Gujarati individuals above 45 years of age for the study. DNA was extracted from their blood samples for PCR and RFLP using specific primers BmsI endonuclease. VDR gene polymorphism with single band of 822bp (AA) two bands of 650bp and 172bp (BB) and three bands of 822bp, 650bp and 172bp (AB) genotypes were detected in normal as well as patients with T2DM. The genotype frequency and gene frequency of the VDR polymorphism did not differ between patients and controls in our present studies. It is therefore concluded that single polymorphism of BsmI is not associated with T2MD, however, further studies considering all types of polymorphisms in VDR gene are required for their association with T2MD and or T1MD/ gestational diabetes. Source

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