HLA-B52
Encyclopedia
B*5101-β2MG with bound peptide
Alleles B*5201, 5202, 5203, . . .
Structure (See HLA-B
HLA-B
HLA-B is a human gene that provides instructions for making a protein that plays a critical role in the immune system. HLA-B is part of a family of genes called the human leukocyte antigen complex...

)
Shared data
Locus
Locus (genetics)
In the fields of genetics and genetic computation, a locus is the specific location of a gene or DNA sequence on a chromosome. A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map...

chr.6
Chromosome 6 (human)
Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs and represents between 5.5 and 6% of the total DNA in cells...

 6p21.31

HLA-B52 (B52) is an HLA
Human leukocyte antigen
The human leukocyte antigen system is the name of the major histocompatibility complex in humans. The super locus contains a large number of genes related to immune system function in humans. This group of genes resides on chromosome 6, and encodes cell-surface antigen-presenting proteins and...

-B
HLA-B
HLA-B is a human gene that provides instructions for making a protein that plays a critical role in the immune system. HLA-B is part of a family of genes called the human leukocyte antigen complex...

 serotype
Serotype
Serotype or serovar refers to distinct variations within a subspecies of bacteria or viruses. These microorganisms, viruses, or cells are classified together based on their cell surface antigens...

. The serotype identifies the more common HLA-B*52 gene products.
B52 is a split antigen of the broad antigen B5
HLA-B5
HLA-B5 is an HLA-B serotype. B5 is a broad antigen serotype that recognizes the B51 and B52 split antigen serotypes.-Serotype:...

, and is a sister type of B51
HLA-B51
HLA-B51 is an HLA-B serotype. The serotype identifies the more common HLA-B*51 gene products.B51 is a split antigen of the broad antigen B5, and is a sister serotype of B52. There are a large number of alleles within the B*51 allele group...

. B*5201 likely formed as a result of a gene conversion
Gene conversion
Gene conversion is an event in DNA genetic recombination, which occurs at high frequencies during meiotic division but which also occurs in somatic cells. It is a process by which DNA sequence information is transferred from one DNA helix to another DNA helix, whose sequence is altered.It is one...

 event between another HLA-B allele and HLA-B*5101.
There are a number of alleles within the B*52 allele group.

Serotype

Serotypes B52, B5, B51, and B53 recognition of HLA B*5201 gene product
B*52 B52 B5 B52 B53 Sample
allele % % % % size (N)
84 2 7 1 2823
Alleles link-out to IMGT/HLA
Human leukocyte antigen
The human leukocyte antigen system is the name of the major histocompatibility complex in humans. The super locus contains a large number of genes related to immune system function in humans. This group of genes resides on chromosome 6, and encodes cell-surface antigen-presenting proteins and...

 Databease at EBI
European Bioinformatics Institute
The European Bioinformatics Institute is a centre for research and services in bioinformatics, and is part of European Molecular Biology Laboratory...



HLA *5201 frequencies
freq
ref. Population (%)
China Yunnan Lisu 21.7
China Yunnan Nu 18.6
Bulgaria Gipsy 18.2
Venezuela Sierra de Perija Yucpa 12.8
India Andhra Pradesh Golla 12.0
Japan Central 10.7
Japan 10.4
Georgia Tibilisi Kurds 10.3
Mali Bandiagara 8.3
South Africa Natal Tamil 8.2
Israel Ashk. and Non-Ashk. Jews 7.3
India North Hindus 6.7
China Beijing 6.1
India New Delhi 6.1
India Mumbai Marathas 5.6
Tunisia Ghannouch 5.5
Thailand pop3 5.1
India West Coast Parsis 5.0
India North Delhi 4.9
Mexico Mestizos 4.9
Argentina Toba Rosario 4.7
Mexico Zaptotec Oaxaca 4.5
USA Hispanic 4.5
China Qinghai Hui 4.1
China Inner Mongolia 3.9
China North Han 3.8
Oman 3.8
Senegal Niokholo Mandenka 3.7
Bulgaria 3.6
Thailand 3.5
Ivory Coast Akan Adiopodoume 3.4
Venezuela Perja Mountain Bari 3.4
Italy North pop 1 3.3
Sudanese 3.3
Romanian 3.2
Singapore Riau Malay 3.0
Autonomous Region Tibetans 2.8
Russia Tuva pop 2 2.8
South Korea pop 3 2.8
Iran Baloch 2.5
Tunisia 2.5
Jordan Amman 2.4
USA Hawaii Okinawa 2.4
Singapore Javanese Indonesians 2.0
Spain Eastern Andalusia 1.8
Macedonia pop 4 1.6
Uganda Kampala 1.6
Belgium 1.5
Mexico Guadalajara Mestizos pop2 1.5
Singapore Thai 1.5
Brazil 1.4
China Yunnan Lisu 1.4
Azores Santa Maria and Sao Miguel 1.3
France South East 1.2
Italy North Pavia 1.2
Saudi Arabia Guraiat and Hail 1.2
Mexico Chihuahua State Tarahumara 1.1
Tunisia Tunis 1.1
Israel Arab Druse 1.0
Japan Ainu Hokkaido 1.0
Portugal Centre 1.0
Singapore Chinese 1.0
Taiwan Minnan pop 1 1.0
USA Caucasian 1.0
Azores Central Islands 0.9
China South Han 0.9
Macedonia pop 4 0.7
Morocco Nador Metalsa Class I 0.7
Georgia Svaneti Svans 0.6
Ireland South 0.6
Italy Bergamo 0.6

Alleles

There are 18 alleles, with 14 amino acid sequence variants in B52. Of these only 9 are frequent enough to have been reliably serotyped. B*5201 is the most common, but others have a large regional abundance.

In ulcerative colitis

HLA-B52 appears to have the strongest linkage to ulcerative colitis
Ulcerative colitis
Ulcerative colitis is a form of inflammatory bowel disease . Ulcerative colitis is a form of colitis, a disease of the colon , that includes characteristic ulcers, or open sores. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset...

 in Japan. This form of disease is frequently found with Takayasu's arteritis
Takayasu's arteritis
Takayasu's arteritis is a form of large vessel granulomatous vasculitis with massive intimal fibrosis and vascular narrowing affecting often young or middle-aged women of Asian descent...

.

In Takayasu's arteritis

Takayasu's arteritis
Takayasu's arteritis
Takayasu's arteritis is a form of large vessel granulomatous vasculitis with massive intimal fibrosis and vascular narrowing affecting often young or middle-aged women of Asian descent...

 appears to have an independent link to B52 associated disease. The association with B*5201 increases risk of pulmonary infarction
Infarction
In medicine, infarction refers to tissue death that is caused by a local lack of oxygen due to obstruction of the tissue's blood supply. The resulting lesion is referred to as an infarct.-Causes:...

, ischemic heart disease, aortic regurgitation, systemic hypertension
Hypertension
Hypertension or high blood pressure is a cardiac chronic medical condition in which the systemic arterial blood pressure is elevated. What that means is that the heart is having to work harder than it should to pump the blood around the body. Blood pressure involves two measurements, systolic and...

, renal artery stenosis
Renal artery stenosis
Renal artery stenosis is the narrowing of the renal artery, most often caused by atherosclerosis or fibromuscular dysplasia. This narrowing of the renal artery can impede blood flow to the target kidney...

, cerebrovascular disease
Cerebrovascular disease
Cerebrovascular disease is a group of brain dysfunctions related to disease of the blood vessels supplying the brain. Hypertension is the most important cause; it damages the blood vessel lining, endothelium, exposing the underlying collagen where platelets aggregate to initiate a repairing process...

, and visual disturbance.
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