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HBB Gene

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Description

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.

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Features

Features

  • Presentation in a volume of 50 microliters (300ng/μL)
  • Used in PCR for various purposes
  • To check the presence or absence of PCR product
  • Examining the quality of DNA in terms of structure and degradation rate
  • Ideal for most standard genetic research applications
  • Avoid errors
  • Eligible for genetic birth certificate
  • having normal, heterozygous or homozygous genotypes
  • Reliable amplification of long DNA fragments
  • Southern hybridization analysis
  • Genomic library construction
Mutation table

The HBB gene, also known as the beta-globin gene, is located on chromosome 11 and codes for the protein beta-globin, a component of hemoglobin. Mutations in the HBB gene can lead to various hemoglobin disorders, including sickle cell disease and beta thalassemia. These mutations can affect the structure or production of the beta-globin protein and lead to the formation of abnormal hemoglobin molecules and improper oxygen transport.

  1. This mutation involves the deletion of two nucleotides, cytosine (C) and thymine (T), in codon 5 of the beta-globin (HBB) gene.
  2. This mutation involves the replacement of guanine (G) with adenine (A) at position -1 of intron 2 in the beta-globin (HBB) gene.
  3. This mutation involves the replacement of guanine (G) with adenine (A) at position -1 of intron 2 in the beta-globin (HBB) gene.
  4. This mutation involves the deletion of a cytosine nucleotide (C) in codon 44 of the beta-globin (HBB) gene, which results in a change in the genetic code.
  5. This mutation involves the substitution of thymine (T) with cytosine (C) at position -6 within the first intron (IVS-I) of the beta-globin (HBB) gene.
  6. This mutation involves replacing the codon tryptophan (Trp) with a stop codon (TAG) in codon 15 of the beta-globin (HBB) gene (premature termination).
  7. This mutation consists of replacing guanine (G) with adenine (A) at position -110 within the first intron (IVSI) of the beta-globin (HBB) gene.
  8. This mutation occurs at position -28 relative to the translation start point of the HBB gene and involves a single nucleotide substitution. Specifically, an adenine (A) is replaced by a cytosine (C).
  9. This mutation consists of a single nucleotide substitution within codon 6. Specifically, a guanine (G) is replaced by a thymine (T), leading to the production of abnormal hemoglobin S and sickle cell disease.
  10. The “+1” sign indicates that the mutation occurs immediately after the translation start point, possibly on the first nucleotide of the mRNA transcript.
  11. Sicilian δβ thalassemia mutations include a large deletion from intron number 2 of the delta gene to the L1 regions after the 3 primes of the beta gene in the delta and beta globin genes.
  12. This mutation involves replacing a nucleotide T with C in the second position from the 3.AG dinucleotide side of the first intron sequence of the HBB gene. Specifically, a thymine (T) is replaced by a cytosine (C), which may.
  13. This mutation includes the deletion of thymine nucleotides in the positions between codons 36 and 37.
  14. This mutation involves a change in the fifth position of the first intervening sequence (IVSI).
  15. This mutation consists of an AA dinucleotide deletion in codon 8 of the HBB gene.
  16. This mutation consists of an A instead of G substitution at the 22nd nucleotide of the 5-prime side of the untranslated region of the HBB gene.
  17. This mutation includes a substitution in codon 22 of the HBB gene.
  18. This mutation includes changes in the overlapping sequence in position 5 of intron 1 and another mutation in codon 39 of the HBB gene.
  19. This mutation includes a change at position 745 in the second intron sequence of the HBB gene, which may affect the mRNA and contribute to the development of hemoglobin disorders.

 

Documents

MSDS