Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Linear discriminants that include data on factor VIII:C and von Willebrand factor antigen levels are well-established tools in estimating the probability of carriership in haemophilia A families. A comparison between the conventional coagulation data, i.e. the ratio of factor VIII:C and von Willebrand factor antigen, and the DNA analysis techniques was made in 98 confirmed carriers (39 obligatory, 69 detected by gene tracking analysis) and 71 normal age matched females who did not have any history of bleeding and were not taking any drug. The lowest misclassification rate, i.e. 7% among the carriers, was seen when a cut-off value of 0.7 was chosen. In the case of normals, all were outside this cut-off value. Thus, it was considered as a workable reference value for classifying the carriers in haemophilia A families in our laboratory. We conclude that the optimal service for haemophilia A carrier diagnosis must include above coagulation test probabilities as well as DNA marker studies. However, it is recommended that the smaller laboratories in developing countries can benefit immensely by only establishing factor VIII:C and von Willebrand factor antigen estimation.
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PMID:Carrier detection in haemophilia A families: comparison of conventional coagulation parameters with DNA polymorphism analysis - first report from India. 1046 77

Hemophilia A is most common recessively inherited bleeding disorder, which affect one in five thousand male births throughout the world. In most of the hemophilic A patients, no common mutation is easily identifiable. This limitation has been overcome by the use of polymorphic DNA marker, i.e., restriction fragment length polymorphism (RFLP). This marker of polymorphism could only be detected by amplifying the polymorphic region and digestion the polymerase chain reaction (PCR) product with the restriction enzyme (PCR-RFLP), i.e., HindIII. The polymorphic region of HindIII is 608 bp in length and after the restriction digestion, different sizes of fragments, i.e., 427 and 181 bp were, respectively, obtained. However, in homozygous (+/+) condition three bands of 427, 100, and 81 bp were obtained and in the other negative allelic homozygous condition (-/-) two bands of 427 and 181 bp were obtained. Similarly fragments of different sizes, i.e., 427, 181, 100, and 81 bp were obtained in heterozygous conditions. Therefore, in this study, we have analyzed the factor VIII gene in the 17 different families using restriction enzyme HindIII-based RFLP molecular marker technique. Out of these, the observed heterozygosity for HindIII was found 47.5%, whereas, for positive allele it was 26%, and for negative allele the frequency was 74%.
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PMID:HindIII-based restriction fragment length polymorphism in hemophilic and nonhemophilic patients. 2209 32