What does the IDH1 gene mutation C R132 mean

View At the molecular level, a gene mutation is a structural change in the composition or order of base pairs in a gene. According to phenotypic effects, mutants can be divided into morphological mutants, biochemical mutants, and lethal mutants. Such a distinction does not address the nature of mutations, and it is not strict.

Because morphological mutations and lethal mutations must have their biochemical basis, strictly speaking, all mutations are biochemical mutations. According to the base change, gene mutations can generally be divided into two categories: basesubstitution and frameshiftmutation. ConsequencesSynonymous mutations, whether base substitution mutations or frameshift mutations, can change the composition or sequence of amino acids in the polypeptide chain, which in turn affects the biological function of gene mutations and proteins or enzymes, and makes the phenotype of the body abnormal.

The effect of base mutations on the amino acid sequence in the polypeptide chain generally has the following types. Samesensemutation: After base substitution, although each codon becomes another codon, due to the degeneracy of the codon, the amino acids encoded by the pre- and posterior codons are changed, so there is no mutation effect.

For example, if the third G of GCG in the template strand of a DNA molecule is replaced by A and becomes GCA, then the corresponding codon CGC in mRNA becomes CGU, and since CGC and CGU are both codons encoding arginine, the gene products (proteins) before and after mutation are exactly the same. Synonymous mutations account for about 25 of the total number of base displacement mutations. Missense mutationMissense mutation:

A mutation in which a base pair is replaced so that one codon of the mRNA becomes a codon encoding another amino acid is called a missense mutation. Missense mutations can cause abnormalities in the structure and function of a certain protein or enzyme in the body, resulting in disease. For example, the sixth position of the human normal hemoglobin chain is glutamic acid, and its codon is GAA or GAG, if the second base A is replaced by U, it becomes GAA or GUG, and glutamic acid is replaced by valine, forming abnormal hemoglobin HBS, resulting in sickle cell anemia in individuals, resulting in mutation effects.

Nonsense mutation: A code encoding an amino acid is mutated into a stop code, and the polypeptide chain synthesis terminates the gene mutation in advance, resulting in a peptide fragment with no biological activity, which is called a nonsense mutation. For example, when G in ATG in a DNA molecule is replaced by T, the codon on the corresponding mRNA strand changes from UAC to UAA, thus stopping translation and shortening the peptide chain.

In most cases, this mutation affects the function of a protein or enzyme.

The codon where the IDH1 gene resides becomes CODEN 132

Gene CDH1 missense mutation, hello, glad to answer for you! CDH1 missense mutation, a study of CDH1 mutation carriers, showed that men with mutations in the E-cadherin (CDH1, a gene associated with hereditary diffuse gastric cancer [HDGC]) gene have a 70% incidence of gastric cancer at age 80. The study also showed that women carrying the gene had a 56% incidence of stomach cancer by the age of 80.

These risk assessments came from a study published in the journal Jamaoncology, done by Samanthahansford (Centre for Translational and Applied Genomics Research, British Columbia Cancer Institute) and colleagues. Researchers want to accurately estimate the risk of gastric cancer in patients with CDH1 mutations and look for other genetic mutations associated with HDGC. The study included 183 patients from the 75 mutation-positive families who met the criteria for HDGC.

The researchers tested for CDH1 and found 31 different mutations in 34 183 (19%) patients.