| http://purl.uniprot.org/citations/16375773 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16375773 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundCystathionine beta-synthase (CBS) mediates conversion of homocysteine to cystathionine and deficiency in enzyme activity may lead to hyperhomocysteinemia/homocystinuria, which are often associated with mental retardation (MR). A large number of polymorphisms have been reported in the CBS gene, some of which impair its activity and among these, a T833C polymorphism in cis with a 68 bp insertion at 844 in the exon 8 is found to be associated with mild hyperhomocysteinemia in different ethnic groups.MethodsThe present study is aimed at investigating the association between T833C/844ins68 polymorphism and MR. One hundred and ninety MR cases were recruited after psychometric evaluation. Hundred and thirty-eight control subjects, two hundred and sixty-seven parents of MR probands and thirty cardiovascular disorder (CVD) patients were included for comparison. Peripheral blood was collected after obtaining informed written consent. The T833C/844ins68 polymorphism was investigated by PCR amplification of genomic DNA and restriction fragment length polymorphism analysis, followed by statistical analysis.ResultsThe genotypic distribution of the polymorphism was within the Hardy-Weinberg equilibrium. A slightly increased genotypic frequency was observed in the Indian control population as compared to other Asian populations. Both haplotype-based haplotype relative risk analysis and transmission disequilibrium test reveled lack of association of the T833C/844ins68 polymorphism with MR; nevertheless, the relative risk calculated was higher (>1) and in a limited number of informative MR families, preferential transmission of the double mutant from heterozygous mothers to the MR probands was noticed (chi2 = 4.00, P < 0.05).ConclusionThis is the first molecular genetic study of CBS gene dealing with T833C/844ins68 double mutation in MR subjects. Our preliminary data indicate lack of association between T833C/844ins68 polymorphism with MR. However, higher relative risk and biased transmission of the double mutation from heterozygous mothers to MR probands are indicative of a risk of association between this polymorphism with mental retardation."xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://purl.org/dc/terms/identifier | "doi:10.1186/1744-9081-1-25"xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://purl.uniprot.org/core/author | "Sinha S."xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://purl.uniprot.org/core/author | "Singh M."xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://purl.uniprot.org/core/author | "Chattopadhyay A."xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://purl.uniprot.org/core/author | "Dutta S."xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://purl.uniprot.org/core/author | "Gangopadhyay P.K."xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://purl.uniprot.org/core/author | "Mukhopadhyay K."xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://purl.uniprot.org/core/author | "Mukhopadhyay J."xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16375773 | http://purl.uniprot.org/core/name | "Behav Brain Funct"xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://purl.uniprot.org/core/pages | "25"xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://purl.uniprot.org/core/title | "Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children."xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://purl.uniprot.org/core/volume | "1"xsd:string |
| http://purl.uniprot.org/citations/16375773 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16375773 |
| http://purl.uniprot.org/citations/16375773 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/16375773 |
| http://purl.uniprot.org/uniprot/#_B7Z2D6-mappedCitation-16375773 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16375773 |
| http://purl.uniprot.org/uniprot/#_B7Z6W5-mappedCitation-16375773 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16375773 |
| http://purl.uniprot.org/uniprot/#_Q3LR94-mappedCitation-16375773 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16375773 |
| http://purl.uniprot.org/uniprot/#_P35520-mappedCitation-16375773 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16375773 |
| http://purl.uniprot.org/uniprot/#_Q5CCK7-mappedCitation-16375773 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16375773 |
| http://purl.uniprot.org/uniprot/#_Q96EH7-mappedCitation-16375773 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16375773 |
| http://purl.uniprot.org/uniprot/#_Q9NTF0-mappedCitation-16375773 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16375773 |
| http://purl.uniprot.org/uniprot/Q9NTF0 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/16375773 |