{"id":3164,"date":"2024-06-16T10:15:22","date_gmt":"2024-06-16T06:45:22","guid":{"rendered":"https:\/\/kawsarbiotech.com\/product\/col7a1-gene\/"},"modified":"2024-07-28T10:09:45","modified_gmt":"2024-07-28T06:39:45","slug":"col7a1-gene","status":"publish","type":"product","link":"https:\/\/kawsarbiotech.com\/en\/product\/col7a1-gene\/","title":{"rendered":"COL7A1 Gene"},"content":{"rendered":"

For precise product selection, please refer to the catalog number listed in the table below:<\/p>\n\n\n\n\n\n
\u00a0<\/strong><\/td>\n\u00a0<\/strong>DNA Name<\/strong><\/td>\n.Cat. No<\/strong><\/td>\nFrameshift mutation<\/td>\nDescription<\/strong><\/td>\n<\/tr>\n
1<\/strong><\/td>\nEB001<\/td>\nKBC-610601<\/td>\nc.6269delC\/N (col7A1 gene) – Carrier<\/td>\n\n
\n
\n
\n
\n

This mutation refers to the deletion of a nucleotide (cytosine) at position 6269, which leads to a frameshift and subsequently changes the amino acid sequence of the final protein, potentially disrupting its function.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/td>\n<\/tr>\n

2<\/td>\nEB002<\/td>\nKBC-610602<\/td>\nc.8253-8254 delAG\/N<\/td>\n\u00a0This mutation involves the deletion of two nucleotides, adenine and guanine, which leads to a frameshift and subsequently changes the amino acid sequence of the final protein, potentially disrupting its function.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

To confirm the proper functioning of primers and other components of PCR, and to verify the efficiency of the amplification step of the target sequence, a control DNA with a known genotype profile can be used as a reference standard for regular quality control assessment of the sample under examination.<\/p>\n

Considering the importance of prenatal diagnosis in molecular genetics and the identification of various pathogenic mutations, the use of disease-specific control DNA is crucial for both direct examination of the pathogenic genotype and the analysis of SNP patterns in genes under investigation via the RFLP method.<\/p>\n

All control DNAs provided have been validated using sequencing or MLPA methods with an optical density (OD) range of 1.7-2.<\/p>\n

The COL7A1 gene is located on the short arm of chromosome 3 and encodes type VII collagen protein, which is essential for anchoring the epidermis to the dermis of the skin. Mutations in this gene result in a group of inherited skin disorders known as dystrophic epidermolysis bullosa (DEB), characterized by skin fragility and blistering.<\/p>\n","protected":false},"excerpt":{"rendered":"

For precise product selection, please refer to the catalog number listed in the table below: \u00a0 \u00a0DNA Name .Cat. No<\/p>\n","protected":false},"featured_media":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false},"product_brand":[],"product_cat":[121,109],"product_tag":[],"class_list":["post-3164","product","type-product","status-publish","product_cat-dna-controls-en","product_cat-kit-accessories-en","first","instock","shipping-taxable","purchasable","product-type-variable"],"acf":[],"_links":{"self":[{"href":"https:\/\/kawsarbiotech.com\/en\/wp-json\/wp\/v2\/product\/3164","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/kawsarbiotech.com\/en\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/kawsarbiotech.com\/en\/wp-json\/wp\/v2\/types\/product"}],"replies":[{"embeddable":true,"href":"https:\/\/kawsarbiotech.com\/en\/wp-json\/wp\/v2\/comments?post=3164"}],"wp:attachment":[{"href":"https:\/\/kawsarbiotech.com\/en\/wp-json\/wp\/v2\/media?parent=3164"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/kawsarbiotech.com\/en\/wp-json\/wp\/v2\/product_brand?post=3164"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/kawsarbiotech.com\/en\/wp-json\/wp\/v2\/product_cat?post=3164"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/kawsarbiotech.com\/en\/wp-json\/wp\/v2\/product_tag?post=3164"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}