Establishment of a new mismatch PCR-RFLP technique for detection of G10430A common mutation present in moderate to mild haemophilia B patients belonging to Gujarati community from the western part of India

Haemophilia

Volumn 14, Issue 3, 2008, Pages 628-629

  Quadros, L ^a   Ghosh, Kanjaksha ^a   Shetty, S ^a  

^a KEM HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 9;

ARTICLE; BASE PAIRING; DIAGNOSTIC ACCURACY; FEMALE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC COUNSELING; GENOTYPE; HEMOPHILIA B; HETEROZYGOTE; HUMAN; INDIA; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REPRODUCIBILITY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS;

AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; FACTOR IX; FEMALE; FOUNDER EFFECT; HEMOPHILIA B; HUMANS; INDIA; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 43149106728     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01704.x     Document Type: Article

References (5)

1. A database of point mutations and short additions and deletions in the factor IX gene. Haemophilia B mutation database-version 13, 2004 Available at http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html. (accessed on 18 January 2008).
2. Quadros L, Ghosh K, Shetty S. A common G10430A mutation (Gly 60 Ser) in the factor IX gene describes the presence of moderate and mild hemophilia B in the majority of the Gujarati population. Ann Hematol 2007; 86: 377-9.
3. Tartary M, Dominique V, Yingchao P et al. Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis. Br J Haematol 1993; 84: 662-9.
4. Ketterling RP, Bottema CD, Phillips JA 3rd, Sommer SS. Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States. Genomics 1991; 10: 1093-6.
5. Thompson AR, Bajaj SP, Chen SH, Macgillivray RTA. Founder effect in different families with hemophilia B mutation. Lancet 1990; 2: 418.