(AC)n microsatellite polymorphism and 14-nucleotide deletion in exon 42 ankyrin-1 gene in several families with hereditary spherocytosis in a population of South-Western Poland.
Defects in ankyrin-1 have been implicated in approximately half of all patients with hereditary spherocytosis. However, not all polymorphisms in this gene lead to the changes in expressed protein or to the changes of the level of its expression. In this study, we report on several cases of the (AC)n microsatellite polymorphism in 3' untranslated region of ANK1 gene found in nine families (19 patients) with hereditary spherocytosis (HS) and also in ten healthy individuals from the same territory. We also found that 14-nucleotide deletion in this region of ANK1 which was shifted by five nucleotides in relation to another 14-nucleotide deletion listed in Single Nucleotide Polymorphism National Center for Biotechnology Information (SNP NCBI) database. This deletion seems to be present only in individuals with 11/14 and 13/14 AC repeats what would be an interesting correlation between these two features. However, comparison of the data obtained for HS patients and healthy individuals indicates that both polymorphisms are not connected to the pathology of hereditary spherocytosis.
Bogusławska
Dzamila M
DM
Heger
Elzbieta
E
Baldy-Chudzik
Katarzyna
K
Zagulski
Marek
M
Maciejewska
Marta
M
Likwiarz
Anna
A
Sikorski
Aleksander F
AF
D017487:Ankyrins / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D013103:Spherocytosis, Hereditary / Q000235:genetics*
C110202:ANK1 protein, human; D017487:Ankyrins