Indian journal of human genetics最新文献

{"title":"Pattern of chromosome involvement in childhood hyperdiploid pre-B-cell acute lymhoblastic leukemia cases from India.","authors":"Lily S Kerketta,&nbsp;Vundinti Baburao,&nbsp;Kanjaksha Ghosh","doi":"10.4103/0971-6866.132751","DOIUrl":"https://doi.org/10.4103/0971-6866.132751","url":null,"abstract":"<p><strong>Background: </strong>Hyperdiploid pre-B-cell acute lymhoblastic leukemia (pre-B-ALL) is a common form of childhood leukemia with very good prognosis with present day chemotherapy. However, the chromosomal composition of the hyperdiploidy has not been extensively studied and possible mechanism for this pathology remains so far conjectural.</p><p><strong>Objective: </strong>To analyze the pattern of chromosome involvement in a cohort of childhood hyperdiploid pre-B-ALL from India and from this pattern to develop an understanding on the causation of such pathology. Whether such patients also carry translocations and FLT3 mutations in addition to their hyperdiploid karyotype.</p><p><strong>Materials and methods: </strong>One hundred and twenty-six childhood pre-B-ALL patients were studied. Bone marrow aspirate of these patients were evacuated for morphology, FAB classification, immunophenotyping and both conventional and molecular cytogenetics.</p><p><strong>Results: </strong>Of 126 patients with pre-B-ALL (age 2-15 years), 90 patients with abnormal karyotype showed 50 with hyperdiploid karyotype (50/90 i.e. 55.5%). Chromosomes 9, 10, 14, 17, 18, 20 and 21 were more often involved in hyperdiploidy. Chromosome 21 duplication was present in 92% of the cases. Chromosomes 5, 15, 16, 17 and Y were less often involved (18-20%) in hyperdiploidy. About 44% of patients with hyperdiploidy had additional karyotypic abnormality of which TEL-AML1 was predominant (24%). Chromosome loss was rare and accounted for 20% of the cases only. We did not find any FLT3 mutation in our patients.</p><p><strong>Conclusion: </strong>In this study, the pattern of chromosome involvement in hyperdiploid karyotype of ALL patients is same as other studies except some chromosomes like 1, 6, 11, 12, 19 and 22 have some more frequent involvement than other studies. This study also showed the occurrence of TEL/AML1 fusion is more (19.8%) than other reports from India.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"32-6"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132751","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32448597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ß-thalassemia and alkaptonuria.","authors":"Sora Yasri,&nbsp;Viroj Wiwanitkit","doi":"10.4103/0971-6866.132772","DOIUrl":"https://doi.org/10.4103/0971-6866.132772","url":null,"abstract":"deficiency in some ethnic groups of Pakistan. J Coll Physicians Surg Pak 2005;15:137‐41. 4. Wang J, Luo E, Hirai M, Arai M, Abdul‐Manan E, Mohamed‐Isa Z, et al. Nine different glucose‐6‐phosphate dehydrogenase (G6PD) variants in a Malaysian population with Malay, Chinese, Indian and Orang Asli (aboriginal Malaysian) backgrounds. Acta Med Okayama 2008;62:327‐32. 5. Matsuoka H, Thuan DT, van Thien H, Kanbe T, Jalloh A, Hirai M, et al. Seven different glucose‐6‐phosphate dehydrogenase variants including a new variant distributed in Lam Dong Province in southern Vietnam. Acta Med Okayama 2007;61:213‐9. 6. Nikhoma ET, Poolee C, Vannappagari V, Beutler E. The global prevalence of glucose 6‐phosphate dehydrogenase deficiency: A systematic review and metaanalysis. Blood Cell Mol Dis 2009;42:267‐78. Access this article online","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"97"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132772","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paraoxonase1, its Q192R polymorphism and HDL-cholesterol in relation to intensive cardiac care unit stay in ischemic heart disease.","authors":"Mahesh Harishchandra Hampe,&nbsp;Mukund Ramchandra Mogarekar","doi":"10.4103/0971-6866.132756","DOIUrl":"https://doi.org/10.4103/0971-6866.132756","url":null,"abstract":"<p><strong>Aims and objectives: </strong>The present study was evaluated the atheroprotective potential of paraoxonase1 (PON1) and its Q192R polymorphism, to determine whether this polymorphism, which is responsible for differential PON1 activity plays any role in the pathogenesis, severity and extent of coronary artery disease (CAD).</p><p><strong>Materials and methods: </strong>This hospital-based cross-sectional study investigated 60 diagnosed cases of CAD and 60 age and gender matched controls. All were assessed for serum PON1 activity, PON1 Q192R polymorphism and for classical cardiovascular risk factors. Individual serum phenotyping for PON1 Q192R polymorphism was determined by double substrate hydrolysis assay. Severity of CAD was assessed by the length of intensive cardiac care unit (ICCU) stay.</p><p><strong>Results: </strong>Serum PON1 activity is significantly reduced in cases of CAD (92.6 ± 31.13 IU/L when compared with controls (105.26 ± 32.53 IU/L). Furthermore, serum arylesterase activity is reduced in CAD patients (90.31 ± 23.26 kU) when compared with the control subjects (101.61 ± 28.68 kU). Serum PON1 and arylesterase activities are significantly negatively correlated with the length of ICCU stay (r = -393 and r = -374 respectively). There is no significant difference in the occurrence of CAD and length of ICCU stay among the PON1 phenotypes (P = 0.92). Logistic regression analysis after adjustment of established risk factors revealed no significant association between CAD risk and PON1 Q192R polymorphism (odds ratios: 1.179 [95% confidence intervals: 0.507-2.744], P = 0.702).</p><p><strong>Summary and conclusions: </strong>The current study demonstrates that the activity of the PON1 enzyme may be more important factor than the PON1 Q192R polymorphism in the severity and extent of CAD.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"51-8"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132756","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A comprehensive analysis of breakpoint cluster region-abelson fusion oncogene splice variants in chronic myeloid leukemia and their correlation with disease biology.","authors":"Zafar Iqbal","doi":"10.4103/0971-6866.132758","DOIUrl":"https://doi.org/10.4103/0971-6866.132758","url":null,"abstract":"<p><strong>Background: </strong>BCR-ABL fusion oncogene is a hallmark of Chronic Myeloid Leukemia (CML). It results due to translocation between chromosome 22 and chromosome 9 [t (9; 22)(q34; q11)]. It gives rise to translation of a 210 KDa chimeric protein (p210), leading to enhanced tyrosine kinase activity and activation of leukemogenic pathways, ultimately causing onset of CML. In case of CML, the classic fusions are b2a2 or b3a2, fusing exon 13 (b2) or exon 14 (b3) of BCR, respectively, to exon 2 (a2) of ABL. The type of BCR-ABL transcripts are thought to be have different prognosis and hence useful in clinical decision-making. The frequencies of different fusion oncogenes associated with leukemia can vary in different ethnic groups and geographical regions due to interplay of genetic variation in different ethnic populations, diverse environmental factors and living style. Moreover, earlier relevant studies from our region were carried out in small subset of patients. Therefore, objective of this study was to find out frequencies of different BCR-ABL splice variants in larger subset of CML patients.</p><p><strong>Methods: </strong>A nested reverse transcriptase polymerase chain reaction (RT-PCR) was established to detect BCR-ABL splice variants in 130 CML patients. Sensitivity of RT-PCR and ability to detect BCR-ABL fusion gene in least possible time was studied.</p><p><strong>Results: </strong>BCR-ABL detection using our optimized RT-PCR protocol could be completed in 8 hours, starting from RNA extraction to Gel electrophoresis. Sensitivity of RT-PCR assay was of the order of 10(-6). Out of 130 Pakistani patients, 83 (63.84%) expressed b3a2 while 47 (36.15%) expressed b2a2 transcript.</p><p><strong>Conclusion: </strong>Our RT-PCR was proved to be very quick to detect BCR-ABL fusion oncogene in CML patients within one working day. Because of its sensitivity, it can be used to monitor complete molecular response in CML. BCR-ABL RT-PCR and BCR-ABL splice variants frequency in our study differs from other ethnic groups. It shows that ethnic and geographical differences exist in BCR-ABL splice variant frequency, which may have a profound effect on disease biology as well as implications in prognosis and clinical management of BCR-ABL positive leukemias.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"64-8"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132758","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Poland syndrome.","authors":"Chandra Madhur Sharma,&nbsp;Shrawan Kumar,&nbsp;Manoj K Meghwani,&nbsp;Ravi P Agrawal","doi":"10.4103/0971-6866.132764","DOIUrl":"https://doi.org/10.4103/0971-6866.132764","url":null,"abstract":"<p><p>Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"82-4"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132764","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Familial Mediterranean fever: An unusual disease enlightening the inflammation biology.","authors":"Kanjaksha Ghosh","doi":"10.4103/0971-6866.132741","DOIUrl":"10.4103/0971-6866.132741","url":null,"abstract":"","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e9/e3/IJHG-20-1.PMC4065472.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32448592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel chromosomal abnormality t (9;14)(p24;q13) in B-acute lymphoblastic leukemia.","authors":"Sureshkumar Raveendran,&nbsp;Santhi Sarojam,&nbsp;Geetha Narayanan,&nbsp;Hariharan Sreedharan","doi":"10.4103/0971-6866.132763","DOIUrl":"https://doi.org/10.4103/0971-6866.132763","url":null,"abstract":"<p><p>Acute lymphoblastic leukemia is a malignant disease of the bone marrow in which early lymphoid precursors proliferate and replace the normal hematopoietic cells of the marrow. We describe the clinical, morphologic, immunophenotypic and cytogenetic findings in the case of a 26-year-old man with B-lymphoblastic leukemia. Surface marker analysis revealed that they are positive for CD markers CD10, CD19, CD13, CD34, CD45 and HLA-DR, but negative for CD20, CD33, CD117 and CD11C markers. Cytogenetic analysis established a novel translocation, t (9;14)(p24;q13). Apart from this, spectral karyotyping revealed an additional translocation, t (6p; 14q). This is the first documented case of B-lymphoblastic leukemia with concurrent occurrence of both abnormalities. Further studies are needed to understand the role of this abnormality in carcinogenesis. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"79-81"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132763","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Raine syndrome.","authors":"B Vishwanath,&nbsp;K Srinivasa,&nbsp;M Veera Shankar","doi":"10.4103/0971-6866.132761","DOIUrl":"https://doi.org/10.4103/0971-6866.132761","url":null,"abstract":"<p><p>Raine syndrome is a rare genetic disorder with characteristic features of exophthalmos, choanal atresia or stenosis, osteosclerosis and cerebral calcifications. Most of babies with this disorder die immediately after birth. We report a baby who was 7 weeks old at the time of presentation. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"72-4"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132761","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurotransmitters in alcoholism: A review of neurobiological and genetic studies.","authors":"Niladri Banerjee","doi":"10.4103/0971-6866.132750","DOIUrl":"https://doi.org/10.4103/0971-6866.132750","url":null,"abstract":"<p><p>Recent advances in the study of alcoholism have thrown light on the involvement of various neurotransmitters in the phenomenon of alcohol addiction. Various neurotransmitters have been implicated in alcohol addiction due to their imbalance in the brain, which could be either due to their excess activity or inhibition. This review paper aims to consolidate and to summarize some of the recent papers which have been published in this regard. The review paper will give an overview of the neurobiology of alcohol addiction, followed by detailed reviews of some of the recent papers published in the context of the genetics of alcohol addiction. Furthermore, the author hopes that the present text will be found useful to novices and experts alike in the field of neurotransmitters in alcoholism. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"20-31"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132750","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32448596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genes and oral cancer.","authors":"Sunit Kumar Jurel,&nbsp;Durga Shanker Gupta,&nbsp;Raghuwar D Singh,&nbsp;Mrinalini Singh,&nbsp;Shilpi Srivastava","doi":"10.4103/0971-6866.132745","DOIUrl":"https://doi.org/10.4103/0971-6866.132745","url":null,"abstract":"<p><p>Oral cancers have been one of the leading causes of deaths particularly in the developing countries. Prime reason for this high mortality and morbidity is attributed to the delay in diagnosis and prompt treatment. Relentless research in the field of oncology has led to the advent of novel procedures for the early detection of oral cancers. Molecular biology is highly promising in this regard. It is a procedure that detects alterations at a molecular level much before they are seen under a microscope and much before clinical changes occur. Molecular studies serve as the basis by which we will eventually be able not only to augment clinical assessment and classification of oral lesions but also predict malignant potential of oral lesions, thus reducing the incidence and increasing the scope for early diagnosis and treatment of oral cancers. However, making such sophisticated tools available for the common man in developing countries is one of the most important challenges faced today. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"4-9"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132745","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32448594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}