2026-09-23T00:54:47Zhttps://iris.unica.it/oai/requestoai:iris.unica.it:11584/2659542022-10-20T08:36:09Zcom_11584_207615com_11584_111066col_11584_265854
Utilizzo della tecnologia microchip per l'identificazione di geni candidati responsabili dell'aumento di HbF.
ANNI, FRANCO
GALANELLO, RENZO
GALANELLO, RENZO
500K
HbF
talassemia
Settore MED/03 - Genetica Medica
Expression of fetal globin is silenced normally in adult life; however, determinants linked and/or unlinked to the globin-gene clusters could modify Hb F expression so it persists into adults. Increased expression in adults offers hope as a cure for sickle cell disease (SCD) and b thalassemia, since formation of FS hybrids in SCD inhibits deoxy Hb S polymerization while increased fetal chain expression compensates partially for decreased adult b-globin chains in b thalassemia. Characterization and controlled manipulation of high Hb F determinants is critical to decreasing clinical severity of these life-threatening genetic diseases, which result in high morbidity and mortality worldwide. We report on analysis of a unique b-thalassemia cohort from Sardinia who present with either 1) a mild, non-transfusion-dependent (NTD) form expressing high Hb F, or with 2) a severe, transfusion-dependent (TD) form expressing low Hb F. Both groups are homozygous for the b39 chain-termination mutation and lack adult b globin. Genome-wide DNA arrays were run on 14 TD and 14 NTD patients using the Affymetrix 500K (500,568 SNPs) SNP chip platforms. The average sample cali rates were 94.3% for the 500K chip. Additional samples are being analyzed in an attempt to achieve sufficient power to reach genome-wide significance.
2007-12-14
info:eu-repo/semantics/doctoralThesis
http://hdl.handle.net/11584/265954
ita
numberofpages:32
info:eu-repo/semantics/openAccess
Università degli Studi di Cagliari
license:Non specificato