Genes location

Disease Mode of Inheritance Gene Location Gene Product... 

Kupriyanova E.V. Ezhova T.A. Lebedeva O.V. Shestakov S.V. (2006) Intraspecific polymorphism in peroxidases genes located on Arabidopsis thaliana chromosome 5 // Biological Bull. N. 4. P. 437-447. 

Tryptase is at the present moment the main clinical marker for anaphylaxis and mastocytosis. There are two major human mast cells tryptases, a- and (3-tryptase, encoded by two genes located at chromosome 16. The haploid genotype for tryptase is (3a or (3(3.25% of individuals are a-tryptase-deficient a-tryptase shows a 90% amino acid sequence identity with (3-tryptase. 

Faulty mismatch repair has been finked to fieredi-tary nonpolyposis colon cancer (HNPCC), one of die most common inherited cancers. Genetic smdies finked HNPCC in some families to a region of cfiromosome 2. The gene located, designated hMSH2, was sub-sequendy shown to encode the human analog of the... 

Deletions in the elastin gene (located at 7qll.23) have been found in approximately 90% of subjects with Williams syndrome, a developmental disorder affecting connective tissue and the central nervous system. The mutations, by affecting synthesis of elastin, probably play a causative role in the supravalvular aortic stenosis often found in this condition. A number of skin diseases (eg, scleroderma) are associated with accumulation of elastin. Fragmentation or, alternatively, a decrease of elastin is found in conditions such as pulmonary emphysema, cutis laxa, and aging of the skin. 

Osteopetrosis (marble bone disease), characterized by increased bone density, is due to inability to resorb bone. One form occurs along with renal tubular acidosis and cerebral calcification. It is due to mutations in the gene (located on chromosome 8q22) encoding carbonic anhydrase II (CAII), one of four isozymes of carbonic anhydrase present in human tissues. The reaction catalyzed by carbonic anhydrase is shown below ... 

Duchenne-type muscular dystrophy is due to mutations in the gene, located on the X chromosome, encoding the protein dystrophin. 

Shibahara, S., Taguchi, H MUller, R Shibata, K., Cohen, T., Tomita, Y., and Tagami, H. (1991). Structural organization of the pigment cell-specific gene located at the brown locus in mouse. J. Biol. Chem. 24 15895-15901. 

However, in humans, there are three different forms of the receptor (FcyRIIA, FcyRIIB and FcyRIIC), and these are encoded by three separate genes located on chromosome lq23. These genes give rise to six separate transcripts ... 

S. Nicolay, F. Argoul, M. Touchon, Y. d Aubenton-Carafa, C. Thermes, and A. Arneodo, Lx)w frequency rhythms in human DNA sequences A key to the organization of gene location and... 

The MTHFR gene is a 19-kb gene located on chromosome 1 (lp36.3). Of the several MTHFR polymorphisms that have been identified (23), two polymorphisms, the C677T and A1298C polymorphisms, have been well studied for their influence on MTX s clinical effects. The C677T polymorphism leads to an alanine-to-valine... 

---