HBA Gene

Description

1. This mutation includes the deletion of 20.5 kb of genetic material in the alpha-globin gene cluster.
2. An allele has a 3.7 kb deletion upstream of the alpha-globin genes, while the other allele is normal.
3. A genotype of the allele has a Mediterranean mutation (–Med) and a normal allele (αα) and is typically found in populations originating from areas around the Mediterranean Sea.
4. A genotype in which one allele has a 4.2 kb deletion upstream of the alpha-globin genes, while the other allele is normal.
5. This DNA control involves the deletion of 5 nucleotides at the +1 position of the intron sequence (IVSI) of the alpha-globin gene. Individuals with this mutation have a deletion allele (αIVSI+1 del -5nt) and a normal allele (αα).
6. This DNA control consists of an adenine (A) to thymine (T) substitution at position 298 in the gene sequence. This change results in a heterozygous genotype, which indicates that one allele has the A>T mutation while the other allele has the normal (N) nucleotide sequence.
7. This mutation includes a substitution in the polyadenylation signal sequence in the 3′ untranslated region (3’UTR) of the alpha globin gene, which can lead to inappropriate mRNA processing and reduced production of alpha globin protein, thus causing beta-thalassemia.

to confirm the correct functioning of primers and other components of PCR and to confirm the efficiency of the desired sequence amplification step, control DNA with a specific profile can be used as a known indicator with a certain genotype. In fact, control DNA can be used as a reference standard. It was used to measure the usual quality control of the examined sample.

Considering the importance of prenatal diagnosis in molecular genetics and the identification of pathogenic mutations, the use of control DNA related to the desired disease, both in terms of directly examining the pathogenic genotype and in terms of examining the SNP pattern in the genes investigated in the method RFLP is important.

All provided DNA controls were confirmed by sequencing or MLPA with an optical absorbance (OD) of 1.7-2.