Here present: “Ichthyosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 鱼质病。
INTRODUCTION.
Ichthyosis (fish scale disease) is a family of genetic skin disorders characterized by dry, thickened, scaly skin. There are about 30 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance.
There is evidence that autosomal recessive congenital ichthyosis type-4A (ARCI4A) is caused by homozygous or compound heterozygous mutation in the ABCA12 gene on cytogenetic location 2q35 and genomic coordinates 2:214,931,542-215,138,626 .
Mutation in the ABCA12 gene can also cause a severe, often-fatal form of congenital ichthyosis, so-called harlequin ichthyosis (ARCI4B) autosomal recessive congenital ichthyosis type-4B. The screenshot of the ABCA12 gene 207,085 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ABCA12 in the 2q35 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:214,411,054 | VWC2L | von Willebrand C protein 2-like |
| 2:214,500,001 | MTBS1 | Mycobacterium tuberculosis, susceptibility |
| 2:214,500,001 | NBLST5 | Neuroblastoma, susceptibility to, 5 |
| 2:214,725,646 | BARD1 | BRCA1-associated RING domain 1 |
| 2:214,931,542 | ABCA12 | ATP-binding cassette, subfamily A, member 12 |
| 2:215,312,059 | ATIC | 5-aminoimidazole-4-carboxamide ribonucleotide-transformylase |
| 2:215,360,865 | FN1 | Fibronectin-1 |
| 2:215,939,308 | MREG | Melanoregulin |
| 2:216,029,088 | PECR | Peroxisomal trans-2-enoyl-CoA reductase |
| 2:216,109,348 | XRCC5 | X-ray repair cross complementing 5 |
