Detection of known haemophilia B mutations and carrier testing by microarray
نویسندگان
چکیده
منابع مشابه
Detection of known haemophilia B mutations and carrier testing by microarray.
The molecular basis of haemophilia B is heterogeneous and many mutations of the Factor IX (FIX) gene have been characterised. Using the allele-specific arrayed primer extension (AS-APEX) technology, we have designed a FIX array to simultaneously analyse 69 mutations found in British, Thai and Chinese patients. This technology overcomes the problem of multiple reverse dot-blot analysis and has a...
متن کاملCarrier analysis of a moderately affected haemophilia B family.
Here we report the successful genetic diagnosis of a pregnant caucasian female patient whose family has a history of moderate haemophilia B. While restriction fragment length polymorphism (RFLP) analysis was not informative, nucleotide sequencing of the factor IX genes of the patient's family members determined that her mother and one of her two sisters were carriers of the mutation C31008T, wh...
متن کاملHaemophilia: strategies for carrier detection and prenatal diagnosis.
In 1977 WHO published in the Bulletin a Memorandum on Methods for the Detection of Haemophilia Carriers. This was produced following a WHO/WFH (World Federation of Haemophilia) Meeting of Investigators in Geneva in November 1976, and has served as a valuable reference article on the genetics of haemophilia. The analyses discussed were based on phenotypic assessment, which, at that time, was the...
متن کاملApplication of three intragenic DNA polymorphisms for carrier detection in haemophilia B.
In the west of Scotland use of a single intragenic restriction fragment length polymorphism (F9(VIII)/TaqI) allowed definitive genetic counselling for 45% of females at risk of being carriers for haemophilia B. Two further intragenic RFLPs, F9(VIII)/XmnI) and F9(VIII)/DdeI, have been applied to this population and by using all three polymorphisms the carrier status could be determined in 68% of...
متن کاملextremal region detection guided by maxima of gradient magnitude
a problem of computer vision applications is to detect regions of interest under dif- ferent imaging conditions. the state-of-the-art maximally stable extremal regions (mser) detects affine covariant regions by applying all possible thresholds on the input image, and through three main steps including: 1) making a component tree of extremal regions’ evolution (enumeration), 2) obtaining region ...
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ژورنال
عنوان ژورنال: Thrombosis and Haemostasis
سال: 2005
ISSN: 0340-6245
DOI: 10.1160/th05-02-0128