Methylenetetrahydrofolate reductase polymorphism is not risk factor for Down syndrome in North India
Conclusion: Results of this study indicate that MTHFR C677T polymorphism is not risk factor for DS. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Vandana RaiUpendra YadavPradeep KumarSushil Kumar Yadav Source Type: research
Mammalian non-classical major histocompatibility complex I and its receptors: Important contexts of gene, evolution, and immunity
BM Pratheek, Tapas K Nayak, Subhransu S Sahoo, Prafulla K Mohanty, Soma Chattopadhyay, Ntiya G Chakraborty, Subhasis ChattopadhyayIndian Journal of Human Genetics 2014 20(2):129-141The evolutionary conserved, less-polymorphic, nonclassical major histocompatibility complex (MHC) class I molecules: Qa-1 and its human homologue human leukocyte antigen-E (HLA-E) along with HLA-F, G and H cross-talk with the T-cell receptors and also interact with natural killer T-cells and other lymphocytes. Moreover, these nonclassical MHC molecules are known to interact with CD94/NKG2 heterodimeric receptors to induce immune responses and im...
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: BM PratheekTapas K NayakSubhransu S SahooPrafulla K MohantySoma ChattopadhyayNtiya G ChakrabortySubhasis Chattopadhyay Source Type: research
Genetics in psychiatry
Shreekantiah Umesh, Shamshul Haque NizamieIndian Journal of Human Genetics 2014 20(2):120-128Today, psychiatrists are focusing on genetics aspects of various psychiatric disorders not only for a future classification of psychiatric disorders but also a notion that genetics would aid in the development of new medications to treat these disabling illnesses. This review therefore emphasizes on the basics of genetics in psychiatry as well as focuses on the emerging picture of genetics in psychiatry and their future implications. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Shreekantiah UmeshShamshul Haque Nizamie Source Type: research
Guidelines for screening, diagnosis and management of hemoglobinopathies
Kanjaksha Ghosh, Roshan Colah, Mamta Manglani, Ved Prakash Choudhry, Ishwar Verma, Nishi Madan, Renu Saxena, Dipty Jain, Neelam Marwaha, Reena Das, Dipika Mohanty, Rajendra Choudhary, Sarita Agarwal, Malay Ghosh, Cecil RossIndian Journal of Human Genetics 2014 20(2):101-119The β-thalassemias and sickle cell disorders are a major health burden in India. Diagnosis and management of these disorders both in adults and in newborns using appropriate approaches and uniform technology are important in different regions of a vast and diverse country as India. In view of a National Thalassemia Control Program to be launc...
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Kanjaksha GhoshRoshan ColahMamta ManglaniVed Prakash ChoudhryIshwar VermaNishi MadanRenu SaxenaDipty JainNeelam MarwahaReena DasDipika MohantyRajendra ChoudharySarita AgarwalMalay GhoshCecil Ross Source Type: research
Methylenetetrahydrofolatereductase C677T polymorphism and folate metabolism in human health
Babu Rao VundintiIndian Journal of Human Genetics 2014 20(2):99-100 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Babu Rao Vundinti Source Type: research
ß-thalassemia and alkaptonuria
Sora Yasri, Viroj WiwanitkitIndian Journal of Human Genetics 2014 20(1):97-97 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Sora YasriViroj Wiwanitkit Source Type: research
Glucose 6-phosphate dehydrogenase deficiency in Muslim community settled in Jaunpur district
Vandana Rai, Pradeep KumarIndian Journal of Human Genetics 2014 20(1):96-97 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Vandana RaiPradeep Kumar Source Type: research
Split-hand/feet malformation in three tamilian families and review of the reports from India
We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: S. Deepak AmalnathMaya GopalakrishnanTarun Kumar Dutta Source Type: research
Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies
Abdelhafid Natiq, Siham Chafai Elalaoui, Thomas Liehr, Saïd Amzazi, Abdelaziz SefianiIndian Journal of Human Genetics 2014 20(1):89-91Chromosomal heteromorphisms are described as interindividual variation of chromosomes without phenotypic consequence. Chromosomal polymorphisms detected include most regions of heterochromatin of chromosomes 1, 9, 16 and Y and the short arms of all acrocentric chromosomes. Here, we report a girl with Down-syndrome such as facies and tremendously enlarged short arm of a chromosome 22. Fluorescence in situ hybridization (FISH) with a probe specific for all acrocentric short arms reveale...
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Abdelhafid NatiqSiham Chafai ElalaouiThomas LiehrSaïd AmzaziAbdelaziz Sefiani Source Type: research
Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter
D. K. Chopade, Harish Harde, Pallavi Ugale, Sandesh ChopadeIndian Journal of Human Genetics 2014 20(1):85-88Rearrangements between homologous chromosomes are extremely rare and manifest mainly as monosomic or trisomic offsprings. There are remarkably few reports of balanced homologous chromosomal translocation t (22q; 22q) and only two cases of transmission of this balanced homohologous rearrangement from mother to normal daughter are reported. Robersonian translocation carriers in non-homologous chromosomes have the ability to have an unaffected child. However, it is not possible to have an unaffected child in cases with ...
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: D. K. ChopadeHarish HardePallavi UgaleSandesh Chopade Source Type: research
Poland syndrome
Chandra Madhur Sharma, Shrawan Kumar, Manoj K. Meghwani, Ravi P. AgrawalIndian Journal of Human Genetics 2014 20(1):82-84Poland'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. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Chandra Madhur SharmaShrawan KumarManoj K. MeghwaniRavi P. Agrawal Source Type: research
A novel chromosomal abnormality t (9;14)(p24;q13) in B-acute lymphoblastic leukemia
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 th...
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Sureshkumar RaveendranSanthi SarojamGeetha NarayananHariharan Sreedharan Source Type: research
Berardinelli-Seip syndrome type 1 in an Egyptian child
Kotb Abbass Metwalley, Hekma Saad FarghalyIndian Journal of Human Genetics 2014 20(1):75-78Berardinelli-Seip syndrome type 1 or Berardinelli-Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. Its prevalence in Egypt is not known. Here, we report case of a 12-year-old Egyptian boy with the clinical, metabolic and molecular genetics manifestations of BSCL1 including overt diabetes mellitus. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Kotb Abbass MetwalleyHekma Saad Farghaly Source Type: research
Raine syndrome
We report a baby who was 7 weeks old at the time of presentation. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: B. VishwanathK. SrinivasaM. Veera Shankar Source Type: research
Chronic myeloid leukemia in case of Klinefelter syndrome
We report a 22-year-old male patient who was diagnosed to have chronic myeloid leukemia in chronic phase. Bone marrow cytogenetic examination revealed karyotype 47, XXY, t (9; 22)(q34, q11) suggestive of KS with presence of Philadelphia chromosome. The patient was treated with oral imatinib mesylate (400 mg/day). Complete hematological response was achieved after 2 months of therapy. The bcr-abl/abl transcript percentage measured from peripheral blood at baseline, 1 and 2 years after imatinib were 97%, 1.99%, 0.007%, respectively. He remains in complete hematological and major molecular remission after...
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Vasundhara ChennuriRajesh KashyapParag TamhankarSubha Phadke Source Type: research
