Könyv Carrier Detection for Hemophilia A carriers in Indian Population Surya Prakash Dwivedi

Carrier Detection for Hemophilia A carriers in Indian Population

Molecular Detection of Haemophilia A Carriers using PCR-RFLP for Bcl 1 Restriction endonuclease

Nyelv: Angol
Kötés: Puha kötésű
Elérhetőség: Beszállítói készleten
Küldés 5-8 napon belül
20 273 Ft
Hemophilia A is an X-linked recessive bleeding disorder caused by mutations in FVIII gene. Genetic a...

Információk a könyvről

Nyelv
Angol
Kötés
Könyv - Puha kötésű
Kiadva
2011
oldal
128
EAN
9783846549377
Enbook ID
06921766
Súly
209
Méretek
150 x 220 x 8

Teljes leírás

Hemophilia A is an X-linked recessive bleeding disorder caused by mutations in FVIII gene. Genetic analysis in Haemophilia A families is widely carried out by linkage analysis by allelotyping using RFLP. These RFLP markers segregate co-dominantly following Mendelian inheritance pattern and can be amplified by PCR using flanking primers. To carryout linkage efficiently, the informativity of individual polymorphic markers should be established for devising a strategy to cover a large number of Haemophilia A affected families for molecular diagnosis and counseling. In present study RFLP marker Bcl 1 was used for identifying the carrier.The objective of present study was to assess the usefulness and application of Bcl 1 polymorphic marker in FVIII gene for genetic counseling in North Indian population. Therty four hemophilic families were examined for carrier detection. The clinical diagnosis was based on detailed family history, physical examination, bleeding time, blood clotting time, activated partial thromboplastin time (APTT) and assay of FVIII level in blood. The clinically confirmed cases of haemophilia were selected for molecular analysis.

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