Alleles	B*4701 B*4702 B*4703
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... )
Symbol(s) Human Genome Organisation The Human Genome Organisation is an organization involved in the Human Genome Project, a project about mapping the human genome. HUGO was established in 1989 as an international organization, primarily to foster collaboration between genome scientists around the world...	HLA-B
EBI-HLA European Bioinformatics Institute The European Bioinformatics Institute is a centre for research and services in bioinformatics, and is part of European Molecular Biology Laboratory...	B*4701
EBI-HLA European Bioinformatics Institute The European Bioinformatics Institute is a centre for research and services in bioinformatics, and is part of European Molecular Biology Laboratory...	B*4702
EBI-HLA European Bioinformatics Institute The European Bioinformatics Institute is a centre for research and services in bioinformatics, and is part of European Molecular Biology Laboratory...	B*4703
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-B47 (B47) 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 HLA-B*47 gene products (B*4701, B*4702, B*4703) . Comparison of B47 nucleotide sequence with other HLA-B sequences shows a segment of 228 bp identical with B44

HLA-B44

HLA-B44 is an HLA-B serotype. The serotype identifies the B*44 gene-allele protein products of HLA-B.B44 is a split antigen of the broad antigen B12, and is a sister type of B45.-Serotype:-Disease:...

 in the alpha 1 domain and a segment of 218 bp identical with B27

HLA-B27

Human Leukocyte Antigen B27 is a class I surface antigen encoded by the B locus in the major histocompatibility complex on chromosome 6 and presents antigenic peptides to T cells...

 in the alpha 2 domain, but only a 91 bp segment of identity with B13

HLA-B13

HLA-B13 is an HLA-B serotype. The serotype identifies the more common HLA-B*13 gene products. -Serotype:-Allele frequencies:...

 in the alpha 1 domain. The complex pattern of substitutions and their degree of divergence indicate that HLA-B13 and HLA-Bw47 alleles are not related by a simple mutational event. B47 is linked to (close to on the chromosome) a gene that causes adrenal deficiency. B47 is generally low in frequency and with highest known frequencies in Central and Western Africa. (For terminology help see: HLA-serotype tutorial)

Serotype

B47 serotype recognition of Some HLA B*47 allele-group gene products

B*47	B47	Other	Sample
allele	%	%	size (N)
4701	50	37	317
4702	40	40	5
4703	25	50	4

Serotyping for B47 is poor and typing is best performed with SSP-PCR or gene sequencing.

Disease Associations

B47 is linked to Adrenal 21-hydroxylase deficiency

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency , in all its forms, accounts for over 95% of diagnosed cases of congenital adrenal hyperplasia, and "CAH" in most contexts refers to 21-hydroxylase deficiency...

. The gene is located close to B47 between and locus.

B*4701 frequencies

HLA B*4701 frequencies

		freq
ref.	Population	(%)
	Bamileke Bamileke The Bamileke is a folk whose native ancestral area is in the western highlands of Cameroon's West Province, west of the Noun River and southeast of the Bamboutos Mountains and in the Moungo region of the Littoral, Southwest, and Centre Provinces. They are a part of the Semi-Bantu ethnic groups...  (Cameroon Cameroon Cameroon, officially the Republic of Cameroon , is a country in west Central Africa. It is bordered by Nigeria to the west; Chad to the northeast; the Central African Republic to the east; and Equatorial Guinea, Gabon, and the Republic of the Congo to the south. Cameroon's coastline lies on the... )	2.6
	Zapotec (Oaxaca Oaxaca Oaxaca , , officially Estado Libre y Soberano de Oaxaca is one of the 31 states which, along with the Federal District, comprise the 32 federative entities of Mexico. It is divided into 571 municipalities; of which 418 are governed by the system of customs and traditions... , Mexico Mexico The United Mexican States , commonly known as Mexico , is a federal constitutional republic in North America. It is bordered on the north by the United States; on the south and west by the Pacific Ocean; on the southeast by Guatemala, Belize, and the Caribbean Sea; and on the east by the Gulf of... )	2.2
	Niokholo Mandinka Mandinka people The Mandinka, Malinke are one of the largest ethnic groups in West Africa with an estimated population of eleven million ....  (Senegal Senegal Senegal , officially the Republic of Senegal , is a country in western Africa. It owes its name to the Sénégal River that borders it to the east and north... )	1.6
	Mbenzele Pygmy (CAR)	1.5
	Nandi Nandi people The Nandi people are a number of Kenyan tribes living in the highland areas of the Nandi Hills in Rift Valley Province who speak the Nandi languages. They are a sub-group of the Kalenjin people....  (Kenya)	1.3
	Sudan Sudan Sudan , officially the Republic of the Sudan , is a country in North Africa, sometimes considered part of the Middle East politically. It is bordered by Egypt to the north, the Red Sea to the northeast, Eritrea and Ethiopia to the east, South Sudan to the south, the Central African Republic to the... ese	1.3
	Yaounde Yaoundé -Transportation:Yaoundé Nsimalen International Airport is a major civilian hub, while nearby Yaoundé Airport is used by the military. Railway lines run west to the port city of Douala and north to N'Gaoundéré. Many bus companies operate from the city; particularly in the Nsam and Mvan neighborhoods...  City (Cameroon)	1.1
	Lusaka Lusaka Lusaka is the capital and largest city of Zambia. It is located in the southern part of the central plateau, at an elevation of about 1,300 metres . It has a population of about 1.7 million . It is a commercial centre as well as the centre of government, and the four main highways of Zambia head...  (Zambia Zambia Zambia , officially the Republic of Zambia, is a landlocked country in Southern Africa. The neighbouring countries are the Democratic Republic of the Congo to the north, Tanzania to the north-east, Malawi to the east, Mozambique, Zimbabwe, Botswana and Namibia to the south, and Angola to the west.... )	1.1
	Central Portugal	1.0
	Bulgaria Bulgaria Bulgaria , officially the Republic of Bulgaria , is a parliamentary democracy within a unitary constitutional republic in Southeast Europe. The country borders Romania to the north, Serbia and Macedonia to the west, Greece and Turkey to the south, as well as the Black Sea to the east...	0.9
	Czech Republic Czech Republic The Czech Republic is a landlocked country in Central Europe. The country is bordered by Poland to the northeast, Slovakia to the east, Austria to the south, and Germany to the west and northwest....	0.9
	Cape Verde Islands	0.8
	Berber Berber people Berbers are the indigenous peoples of North Africa west of the Nile Valley. They are continuously distributed from the Atlantic to the Siwa oasis, in Egypt, and from the Mediterranean to the Niger River. Historically they spoke the Berber language or varieties of it, which together form a branch...  (Morocco Morocco Morocco , officially the Kingdom of Morocco , is a country located in North Africa. It has a population of more than 32 million and an area of 710,850 km², and also primarily administers the disputed region of the Western Sahara... )	0.7
	Finland Finland Finland , officially the Republic of Finland, is a Nordic country situated in the Fennoscandian region of Northern Europe. It is bordered by Sweden in the west, Norway in the north and Russia in the east, while Estonia lies to its south across the Gulf of Finland.Around 5.4 million people reside...	0.6
	Svans Svans The Svans are a group of Georgians that mostly live in Svaneti, a region of Georgia speaking the Svan language. The self designated Svan is Mushüan, known to the ancient authors as Misimian.-History:...  (Georgia Georgia (country) Georgia is a sovereign state in the Caucasus region of Eurasia. Located at the crossroads of Western Asia and Eastern Europe, it is bounded to the west by the Black Sea, to the north by Russia, to the southwest by Turkey, to the south by Armenia, and to the southeast by Azerbaijan. The capital of... )	0.6
	Bergamo Bergamo Bergamo is a town and comune in Lombardy, Italy, about 40 km northeast of Milan. The comune is home to over 120,000 inhabitants. It is served by the Orio al Serio Airport, which also serves the Province of Bergamo, and to a lesser extent the metropolitan area of Milan...  (Italy)	0.6
	Romanians Romanians The Romanians are an ethnic group native to Romania, who speak Romanian; they are the majority inhabitants of Romania....	0.6
	North Delhi ((India))	0.5
	Orkney Isles (Scotland Scotland Scotland is a country that is part of the United Kingdom. Occupying the northern third of the island of Great Britain, it shares a border with England to the south and is bounded by the North Sea to the east, the Atlantic Ocean to the north and west, and the North Channel and Irish Sea to the... )	0.5
	Basque (Guipuscoa Guipuscoa Gipuzkoa is a province of Spain and a historical territory of the Basque Country. Its capital city is Donostia-San Sebastián. It limits with the French department of Pyrénées-Atlantiques at the northeast, with the province and autonomous community of Navarre at east, Biscay at west, Álava at... , Spain)	0.5
	Southeastern (France)	0.4
	Oman Oman Oman , officially called the Sultanate of Oman , is an Arab state in southwest Asia on the southeast coast of the Arabian Peninsula. It is bordered by the United Arab Emirates to the northwest, Saudi Arabia to the west, and Yemen to the southwest. The coast is formed by the Arabian Sea on the...	0.4
	Kenya	0.3