Here I present: “Progressive Intrahepatic Cholestasis”, Victor Mckusick, Mendelian Inheritance in Man’, 1966. 进展性肝内胆碱中毒。(PFIC).
INTRODUCTION.
Progressive intrahepatic cholestasis (PIC) is a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. The clinical presentation usually occurs first in childhood with progressive cholestasis. This usually leads to failure to thrive, cirrhosis, and the need for liver transplantation.
There is evidence that progressive familial intrahepatic cholestasis type-2 (PFIC2) is caused by homozygous or compound heterozygous mutation in the ABCB11 gene, which encodes a liver-specific ATP-binding cassette (ABC) evidence that progressive familial intrahepatic cholestasis type-2 (PFIC2) is caused by homozygous or compound heterozygous mutation in the ABCB11 gene, which encodes a liver-specific ATP-binding cassette transporter, on cytogenetic location 2q31.1 and genomic coordinates 2:168,915,390-169,031,324 .
The screenshot of the ABCB11 gene 115,935 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ABCB11 in the 2q31.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:168,900,001 | IDDM7 | Insulin-dependent diabetes mellitus-7 |
| 2:168,900,001 | PNKD2 | Paroxysmal nonkinesigenic dyskinesia 2 |
| 2:168,900,001 | SHFM5 | Split-hand/foot malformation 5 |
| 2:168,901,291 | G6PC2 | Glucose-6-phosphatase, catalytic, 2 |
| 2:168,915,390 | ABCB11 | ATP-binding cassette, subfamily B, member 11 |
| 2:169,067,077 | DHRS9 | Short-chain dehydrogenase/reductase 9 |
| 2:169,127,109 | LRP2 | Low density lipoprotein-related protein 2 |
| 2:169,479,494 | BBS5 | BBS gene 5 |
| 2:169,509,702 | KLHL41 | Kelch-like family member 41 |
| 2:169,528,508 | FASTKD1 | Fast kinase domains 1 |
