Indian journal of human genetics最新文献

{"title":"Cost-effectiveness analysis for triple markers serum screening for Down's syndrome in Thai setting.","authors":"Viroj Wiwanitkit","doi":"10.4103/0971-6866.142880","DOIUrl":"https://doi.org/10.4103/0971-6866.142880","url":null,"abstract":"<p><strong>Background: </strong>Down's syndrome is an important congenital chromosomal disorder that can be seen around the world. The antenatal screening for this disorder is an important processing in present obstetrics.</p><p><strong>Objective: </strong>Due to the concept of first do no harm, the use of noninvasive test is recommended. The triple marker screening test has been introduced for a few years and acceptable for its efficacy.</p><p><strong>Result: </strong>However, an important concern is on its cost-effectiveness. Here, the author analyze and present the cost-effectiveness of the triple markers serum screening for Down's syndrome in Thai setting.</p><p><strong>Conclusion: </strong>According to this work, the cost per effectiveness of triple markers serum screening is slightly lower than standard amniocentesis test.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"153-4"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142880","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816510","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":"Fetal valproate syndrome.","authors":"Parmarth G Chandane,&nbsp;Ira Shah","doi":"10.4103/0971-6866.142898","DOIUrl":"https://doi.org/10.4103/0971-6866.142898","url":null,"abstract":"<p><p>Antenatal use of anticonvulsant valproic acid can result in a well-recognized cluster of facial dysmorphism, congenital anomalies and neurodevelopmental retardation. In this report, we describe a case with typical features of fetal valproate syndrome (FVS). A 26-year-old female with epilepsy controlled on sodium valproate 800 mg/day since 3 years, gave birth to a male child with characteristic features of FVS. She also had 3 spontaneous first-trimester abortions during those 3 years. Sodium valproate, a widely used anticonvulsant and mood regulator, is a well-recognized teratogen that can result in facial dysmorphism, craniosynostosis, neural tube defects, and neurodevelopmental retardation. Therefore, we strongly recommend avoidance of valproic acid and supplementation of folic acid during pregnancy. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"187-8"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142898","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816902","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":"Phenotypical characterization of 13q deletion syndrome: Report of two cases.","authors":"Eiman Bagherizadeh,&nbsp;Yousef Shafaghati,&nbsp;Fatemeh Hadipour,&nbsp;Farkhondeh Behjati","doi":"10.4103/0971-6866.142912","DOIUrl":"https://doi.org/10.4103/0971-6866.142912","url":null,"abstract":"<p><p>Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups: In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33-q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"203-5"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142912","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32817354","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":"Association of maternal folate with methylene tetrahydrofolate reductase polymorphism relationship in infants <3 months with Down syndrome.","authors":"Pankaj Kumar Mohanty,&nbsp;Seema Kapoor","doi":"10.4103/0971-6866.142915","DOIUrl":"https://doi.org/10.4103/0971-6866.142915","url":null,"abstract":"209 Sir, This is in reference to our article published in Indian Journal of Human Genetics titled “Evaluation of C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene and its association with levels of serum homocysteine, folate, and Vitamin B12 as maternal risk factors for Down syndrome (DS)”.[1] We found a genuine relationship between maternal folate and MTHFR gene polymorphism in <3 months infants, which was not analyzed in the original article. In DS mothers with baby <3 months, red blood cell (RBC) folate were significantly lower than controls, but not in case of serum folate. Though association with polymorphism was not statistically significant, but gave us a trend [Table 1]. Lower RBC folate in mothers with baby <3 months possibly denotes status at conception.[2] RBC folate is a preferred marker to assess long-term folate status. Data’s from the selected randomized controlled trials showed that folic acids with dietary folate supply exerted a significant effect on all the markers of folate status, especially for RBC folate.[3] Similarly, a meta-analysis by Mohamed[4] showed that routine folate supplementation in pregnancy resulted in a substantial reduction in the incidence of low serum and Letter to the Editor","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"209-10"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142915","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32817356","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":"Methylenetetrahydrofolate reductase polymorphism is not risk factor for Down syndrome in North India.","authors":"Vandana Rai,&nbsp;Upendra Yadav,&nbsp;Pradeep Kumar,&nbsp;Sushil Kumar Yadav","doi":"10.4103/0971-6866.142858","DOIUrl":"https://doi.org/10.4103/0971-6866.142858","url":null,"abstract":"<p><strong>Background: </strong>Down syndrome (DS) is the most common cause of mental retardation of genetic etiology with the prevalence rate of 1/700 to 1/1000 live births worldwide. Several polymorphisms in folate/homocysteine metabolism pathways genes have been reported as a risk factor in women for bearing DS child, but very few studies investigated these polymorphisms in DS cases whether there are a risk factor for being DS or not.</p><p><strong>Objective: </strong>We have investigated the association of methylenetetrahydrofolate reductase (MTHFR) with the occurrence of DS in Indian population. MTHFR is one of the key regulatory enzymes involved in the metabolic pathway of homocysteine responsible for the reduction of methyltetrahydrofolate. A total of 32 DS cases and 64 age, sex matched controls were genotyped for MTHFR C677T polymorphism by polymerase chain reaction-restriction fragment length polymorphism.</p><p><strong>Results: </strong>The observed genotype frequencies were CC = 0.81; CT = 0.17 and TT = 0.02 in controls and CC = 0.81 and CT = 0.19 in DS cases. Frequency of T allele in DS and controls were 0.09 and 0.1, respectively. Significant difference in the distribution of mutant 677T allele was not observed between DS cases and controls (odds ratio = 0.915; 95% confidence intervals: 0.331-2.53; P = 0.864).</p><p><strong>Conclusion: </strong>Results of this study indicate that MTHFR C677T polymorphism is not risk factor for DS.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"142-7"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142858","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816508","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":"FLT3 and NPM-1 mutations in a cohort of acute promyelocytic leukemia patients from India.","authors":"Suchitra Swaminathan,&nbsp;Swati Garg,&nbsp;Manisha Madkaikar,&nbsp;Maya Gupta,&nbsp;Farah Jijina,&nbsp;Kanjaksha Ghosh","doi":"10.4103/0971-6866.142884","DOIUrl":"https://doi.org/10.4103/0971-6866.142884","url":null,"abstract":"<p><strong>Background: </strong>Acute promyelocytic leukemia (APL) with t (15;17) is a distinct category of acute myeloid leukemia (AML) and is reported to show better response to anthracyclin based chemotherapy. A favorable overall prognosis over other subtypes of AML has been reported for APL patients but still about 15% patients relapse.</p><p><strong>Methods: </strong>This study evaluated the presence of Famus like tyrosine kinase-3 (FLT3) and nucleophosmin-1 (NPM1) gene mutations in a cohort of 40 APL patients. Bone marrow/peripheral blood samples from patients at the time of diagnosis and follow-up were processed for immunophenotyping, cytogenetic markers and isolation of DNA and RNA. Samples were screened for the presence of mutations in FLT3 and NPM1 genes using polymerase chain reaction followed by sequencing.</p><p><strong>Results: </strong>Frequency of FLT3/internal tandem duplication and FLT3/tyrosine kinase domain was found to be 25% and 7% respectively. We observed a high frequency of NPM1 mutation (45%) in the present population of APL patients.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"160-5"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142884","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816898","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":"Prevalence of genetic variants associated with cardiovascular disease risk and drug response in the Southern Indian population of Kerala.","authors":"Lakshmi Mahadevan,&nbsp;Ancy Yesudas,&nbsp;P K Sajesh,&nbsp;S Revu,&nbsp;Prasanna Kumar,&nbsp;Devi Santhosh,&nbsp;Sam Santhosh,&nbsp;J M Sashikumar,&nbsp;V K Gopalakrishnan,&nbsp;Joji Boben,&nbsp;Changanamkandath Rajesh","doi":"10.4103/0971-6866.142896","DOIUrl":"https://doi.org/10.4103/0971-6866.142896","url":null,"abstract":"<p><strong>Background and aim: </strong>This study reports the prevalence of five clinically significant variants associated with increased risk of cardiovascular disorders, and variable responses of individuals to commonly prescribed cardiovascular drugs in a South Indian population from the state of Kerala.</p><p><strong>Materials and methods: </strong>Genomic DNA isolated from 100 out-patient samples from Kerala were sequenced to examine the frequency of clinically relevant polymorphisms in the genes MYBPC3 (cardiomyopathy), SLCO1B1 (statin-induced myopathy), CYP2C9, VKORC1 (response to warfarin) and CYP2C19 (response to clopidogrel).</p><p><strong>Results: </strong>Our analyses revealed the frequency of a 25 bp deletion variant of MYBPC3 associated with risk of cardiomyopathy was 7%, and the SLCO1B1 \"C\" allele associated with risk for statin-induced myopathy was 15% in this sample group. Among the other variants associated with dose-induced toxicity of warfarin, VKORC1 (c.1639G>A), was detected at 22%, while CYP2C9*3 and CYP2C9*2 alleles were present at a frequency of 15% and 3% respectively. Significantly, the tested sample population showed high prevalence (66%) of CYP2C19*2 variant, which determines response to clopidogrel therapy.</p><p><strong>Conclusions: </strong>We have identified that certain variants associated with cardiovascular disease and related drug response in the five genes, especially those in VKORC1, CYP2C19 and MYBPC3, are highly prevalent in the Kerala population, with almost 2 times higher prevalence of CYP2C19*2 variant compared with other regions in the country. Since the variants chosen in this study have relevance in disease phenotype and/or drug response, and are detected at a higher frequency, this study is likely to encourage clinicians to perform genetic testing before prescribing therapy.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"175-84"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142896","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816900","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":"Guidelines for screening, diagnosis and management of hemoglobinopathies.","authors":"Kanjaksha Ghosh,&nbsp;Roshan Colah,&nbsp;Mamta Manglani,&nbsp;Ved Prakash Choudhry,&nbsp;Ishwar Verma,&nbsp;Nishi Madan,&nbsp;Renu Saxena,&nbsp;Dipty Jain,&nbsp;Neelam Marwaha,&nbsp;Reena Das,&nbsp;Dipika Mohanty,&nbsp;Rajendra Choudhary,&nbsp;Sarita Agarwal,&nbsp;Malay Ghosh,&nbsp;Cecil Ross","doi":"10.4103/0971-6866.142841","DOIUrl":"https://doi.org/10.4103/0971-6866.142841","url":null,"abstract":"<p><p>The 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 launched soon, a need was felt for guidelines on whom to screen, cost-effective technologies that are to be used as well as for establishing prenatal diagnosis programs in regional centers. Newborn screening for sickle cell disorders is in its infancy in India and uniform approaches need to be followed. Also, included are guidelines for monitoring and managing patients who are now growing older and need comprehensive care as well as management of complications of the disease. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"101-19"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142841","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32816505","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":"First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis.","authors":"Abbas Sahami,&nbsp;Nourkhoda Sadeghifard,&nbsp;Alireza Monsef,&nbsp;Hadi Peyman","doi":"10.4103/0971-6866.142911","DOIUrl":"https://doi.org/10.4103/0971-6866.142911","url":null,"abstract":"<p><p>So far, more than 1800 mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this case report, we presented first report of c. 1499G>C mutation in a 6-month-old girl with cystic fibrosis (CF) diagnosis. A 6-month-old girl with weakness and meconium Ileus referred to the pediatric clinic in Ilam, in the west of Iran. Patient's skin was dark and suffered from bronchiectasis. The sweat test was performed, and the concentration of chloride and sodium in patient's sweat was 130-135 mmol/L and 125-128 mmol/L, respectively. The exon 10 mutation analysis of a CF patient was performed. CFTR mutation analysis revealed the identification of 2 mutations in patient, the mutations were p.F508del (ΔF508) and c. 1499G>C (cd500), respectively. The mutation c. 1499G>C (cd500) were found for the first time in the world. Assessing this mutation in future study and genetic investigation is recommended. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"199-202"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.142911","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32817353","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":"Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature.","authors":"Daipayan Chatterjee","doi":"10.4103/0971-6866.142914","DOIUrl":"https://doi.org/10.4103/0971-6866.142914","url":null,"abstract":"<p><p>Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). It is listed as a \"rare disease\" by the Office of Rare Diseases of the National Institutes of Health. Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 2","pages":"206-8"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9e/c8/IJHG-20-206.PMC4228578.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32817355","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}