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Hemophilia B families with the same mutation are often related: a survey of the Swedish population
Lund University, Department of Paediatrics.
Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.
Högskolan Kristianstad, Sektionen för lärande och miljö, Avdelningen för Naturvetenskap. Högskolan Kristianstad, Forskningsmiljön Biomedicin.ORCID-id: 0000-0002-9355-3901
2012 (engelsk)Inngår i: Haemophilia (ISSN 1351-8216) 2012: 18 (supplement 3), p. 109, 2012, Vol. 18, nr Suppl. 3, 109-109 s.Konferansepaper, Oral presentation with published abstract (Annet vitenskapelig)
Abstract [en]

Aim: To study if families with hemophilia B in Sweden carrying the same mutation are identical by descent (IBD) or the result of independent mutations (RM).

Study group: A total of 77 presumed unrelated and unselected Swedish families with hemophilia B comprising all clinical severities (total and large deletions not included). Control group of 256 healthy individuals.

Methods: Haplotyping was performed using 90 SNP markers (11 within the F9 gene) and 1 microsatellite marker. The frequencies of shared haplotypes were determined in the control group, and the ages of the shared haplotypes will be determined using the program ESTIAGE.

Results: Analysis of the mutations gave the following results: 5 small deletions (<10bp), 2 small insertions (<10bp), 3 splice site mutations, 14 nonsense mutations, and 53 missense mutations. A total of 30 mutations (39%) occurred in a single individual only, whereas the remaining 47 mutations occurred in 2 or more individuals; 7 mutations occurred in 2 individuals, 4 mutations occurred in 3 individuals, 2 mutations occurred in 4 individuals, 1 mutation occurred in 6 individuals, and 1 mutation occurred in 7 individuals each, i.e., 47 mutations out of 77 (61%) were either IBD or recurrent mutation. Haplotyping and comparisons with the control group classified 21/47 mutations as IBD and 25/47 as RM. The phenotypes of the 21 IBD individuals were mild (17), moderate 2), and severe (1); those of the 25 RM individuals were mild (7), moderate (7), and severe (12). Age estimation of the mutations is ongoing.

Conclusion: Many families with hemophilia B, in particular those with milder forms, carrying the same mutation are IBD, i.e., revision of ‘‘hot-spots’’ for mutation is needed.

sted, utgiver, år, opplag, sider
2012. Vol. 18, nr Suppl. 3, 109-109 s.
HSV kategori
Identifikatorer
URN: urn:nbn:se:hkr:diva-9553DOI: 10.1111/j.1365-2516.2012.02820.xISI: 000305457801056OAI: oai:DiVA.org:hkr-9553DiVA: diva2:540840
Konferanse
The XXX International Congress of the World Federation of Hemophilia, July 8-12, Paris, France
Tilgjengelig fra: 2012-07-12 Laget: 2012-07-12 Sist oppdatert: 2014-06-10bibliografisk kontrollert

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