A new beta-globin mutation responsible of a beta-thalassemia (HbVar database ID 2928) was observed in 8 unrelated French families. The mutation carriers originated from Nord-Pas-de-Calais, a Northern French region where the chief town is Lille.5 unrelated mutation carriers were genotyped for a set of 12 microsatellites from chromosome 11, around the beta-globin gene. Among the 5 mutation carriers, 4 were genotyped for 97 European Ancestry Informative SNPs (EAIMs). 32 controls from Nord-Pas-de-Calais were genotyped for the microsatellites and SNPs.
Contact Information
Marchi Nina
marchinina@gmail.com
This DAC controls 2 datasets
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00010000624 | - | ||
EGAD00010000626 | 37 |