Details

Autor(en) / Beteiligte

• Levo, A
• Kuismanen, K
• Holopainen, P
• Vahtera, E
• Rasi, V
• Krusius, T
• Partanen, J

Titel

Single founder mutation (W380G) in type II protein C deficiency in Finland

Ist Teil von

• Thrombosis and haemostasis, 2000-09, Vol.84 (3), p.424

Ort / Verlag

Germany

Erscheinungsjahr

2000

Quelle

MEDLINE

Beschreibungen/Notizen

• The present study investigated the genetic basis for type II protein C deficiency in Finland, where this form has an unusually high incidence. We demonstrated that, first, a single novel mutation W380G in the protein C gene (PROC) explained 25/26 index patients, estimated to represent two thirds of all families with type II deficiency in Finland. Second, extended chromosomal conservation, i.e. a specific haplotype, around the W380G mutation was indicated in unrelated patients. Third, a local geographical origin for the W380G mutation was suggested by genealogical data. These results are in contrast to the heterogeneity in type II protein C deficiency elsewhere, but closely parallel disorders of the Finnish disease heritage. The high frequency of the type II disease can be explained by founder effect and subsequent enrichment of a single mutation in Finland. The present study also provided a simple means for genetic diagnosis of this disease and the genetic test can be included in the routine screenings in this population.