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The Quest for a Donor: Probability Based Methods Offer Help.

Petter Mostad (Institutionen för matematiska vetenskaper, matematisk statistik) ; Thore Egeland ; Robert G. Cowell ; Vidar Bosnes ; Oivind Braaten

When a patient in need of a stem cell transplant has no compatible donor within his or her closest family, and no matched unrelated donor can be found, a remaining option is to search within the patient’s extended family. This situation often arises when the patient is of an ethnic minority, originating from a country that lacks a well-developed stem cell donor program, and has HLA haplotypes that are rare in his or her country of residence. Searching within the extended family may be time-consuming and expensive, and tools to calculate the probability of a match within groups of untested relatives would facilitate the search. We present a general approach to calculating the probability of a match in a given relative, or group of relatives, based on the pedigree, and on knowledge of the genotypes of some of the individuals. The method extends previous approaches by allowing the pedigrees to be consanguineous and arbitrarily complex, with deviations from Hardy-Weinberg equilibrium. We show how this extension has a considerable effect on results, in particular for rare haplotypes. The methods are exemplified using freeware programs to solve a case of practical importance.

Nyckelord: Donor search; pedigree calculations; consanguinity

Denna post skapades 2008-12-18. Senast ändrad 2015-08-25.
CPL Pubid: 82080


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Institutioner (Chalmers)

Institutionen för matematiska vetenskaper, matematisk statistik (2005-2016)


Matematisk statistik
Medicinsk genetik

Chalmers infrastruktur