Genomic coordinate 7: 94,394,895
Here I present: “Osteogenesis Imperfecta”, Victor McKusick, Mendelian Inheritance in Man’,1966. (OI) 骨形成不完美。icd10=Q78.0
INTRODUCTION.
Osteogenesis imperfecta (OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. The range of symptoms—on the skeleton as well as on the body’s other organs—may be mild to severe. Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems and problems with the teeth (dentinogenesis imperfecta). Potentially life threatening complications, all of which become more common in more severe OI, include: tearing of the major arteries, such as the aorta; pulmonary valve insufficiency secondary to distortion of the ribcage; and basilar invagination.
Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type-I collagen in over 90% of cases. Due to considerable phenotypic variability, developed a classification of OI subtypes: OI type-I with blue sclerae; perinatal lethal OI type-II, also known as congenital OI; OI type-III, a progressively deforming form with normal sclera; and OI type-IV, with normal sclerae.
There is evidence that osteogenesis imperfecta (OI) type-IV is caused by heterozygous mutation in the COL1A2 gene on cytogenetic location 7q21.3 and genomic coordinates 7:94,394,895-94,431,227. The screenshot of the COL1A2 gene 36,333 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides COL1A2 in the 7q21.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:93,885,396 | TFPI2 | Tissue factor pathway inhibitor-2 |
| 7:93,906,567 | GNGT1 | Guanine nucleotide-bind protein, gamma-transduce polypeptide 1 |
| 7:93,921,735 | GNG11 | Guanine nucleotide-binding protein, gamma 11 |
| 7:93,962,762 | BET1 | Bet1 golgi vesicular membrane-trafficking protein |
| 7:94,394,895 | COL1A2 | Collagen I, alpha-2 polypeptide |
| 7:94,509,809 | CASD1 | CAS1 domain-containing protein 1 |
| 7:94,584,980 | SGCE | Sarcoglycan, epsilon |
| 7:94,656,325 | PEG10 | Paternally expressed gene 10 |
| 7:94,907,236 | PPP1R9A | Protein phosphatase 1, regulatory subunit 9A (neurabin I) |
| 7:95,297,676 | PON1 | Paraoxonase-1 |
