Here I present: “Gluten-Sensitive Enteropathy (Celiac Disease)”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (GSE) 乳糜瀉。 icd10=K90.0
INTRODUCTION.
Celiac disease is a long-term autoimmune disorder, primarily affecting the small intestine. Patients develop intolerance to gluten, which is present in foods such as wheat, rye, spelt and barley. Classic symptoms include gastrointestinal problems such as chronic diarrhea, abdominal distention, malabsorption, loss of appetite, and among children failure to grow normally.
Celiac disease, also known as gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins. Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children.
The susceptibility to celiac disease type-1 has been found to be caused by mutation of the HLA-DQA1 gene on cytogenetic location 6p21.32 and genomic coordinates 6:32,637,406-32,655,272. The screenshot of the HLA-DQA1 gene 17,867 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides HLA-DQA1 in the 6p21.32 cytogenetic location are listed BELOW.
| Coordinate | Symbol | Genomic Name |
| 6:32,393,339 | BTNL2, SS2 | Butyrophilin-like protein 2 |
| 6:32,439,887 | HLA-DRA | Major histocompatibility complex, class II, DR alpha |
| 6:32,517,353 | HLA-DRB5 | Major histocompatibility complex, class II, DR beta-5 |
| 6:32,578,775 | HLA-DRB1 | Major histocompatibility complex, class II, DR beta-1 |
| 6:32,637,406 | HLA-DQA1 | Major histocompatibility complex, class II, DQ alpha-1 |
| 6:32,659,467 | HLA-DQB1 | Major histocompatibility complex, class II, DQ beta-1 |
| 6:32,741,391 | HLA-DQA2 | Major histocompatibility complex, class II, DQ alpha-2 |
| 6:32,756,098 | HLA-DQB2 | Major histocompatibility complex, class II, DQ beta-2 |
| 6:32,812,763 | HLA-DOB | Major histocompatibility complex, class II, DO beta |
| 6:32,821,831 | TAP2 | Transporter 2, ATP-binding cassette, subfamily B |
