Genomic coordinate 8:45,200,001
Here I present: “Chondrocalcinosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 軟骨鈣化症。(CCAL1) icd10=M11.2
INTRODUCTION.
Chondrocalcinosis (cartilage calcification) is accumulation of calcium salts in hyaline-cartilage or fibrocartilage. Chondrocalcinosis is an observation that can be visualized through diagnostic imaging tests such as X-rays.
Chondrocalcinosis, (cartilage calcification) is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular-hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks (‘pseudogout‘) or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in three (3) forms: a primary hereditary form; a form associated with metabolic disorders; and a sporadic form.
There is evidence chondrocalcinosis type-1 is caused by mutation in the CCAL1 gene on cytogenetic location 8q and genomic coordinates 8:45,200,001-145,138,636. The screenshot of the CCAL1 gene 99,938,636 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides CCAL1 in the 8q cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:43,056,323 | FNTA | Farnesyltransferase, CAAX box, alpha |
| 8:43,093,515 | POMK | Protein-O-mannose kinase |
| 8:43,140,464 | HGSNAT | Heparan-alpha-glucosaminide N-acetyltransferase |
| 8:43,292,370 | POTEA | POTE ankyrin domain family, member A |
| 8:45,200,001 | CCAL1 | Chondrocalcinosis 1 |
| 8:45,200,001 | HBFQTL4 | Fetal hemoglobin quantitative trait locus 4 |
| 8:45,200,001 | PAFC | Preauricular fistulae, congenital |
| 8:46,840,886 | LINC00293 | Long intergenic noncoding RNA 293 |
| 8:47,200,001 | GCCD3 | Glucocorticoid deficiency 3 |
| 8:47,260,878 | SPIDR | Scaffolding protein involved in DNA repair |
