ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the Yale Center for Medical Informatics.
00ALFRED detailed record information

Population Information

NameALFRED UIDPrimary LanguageLanguage Family
MbutiPO000006GLESENILO-SAHARAN

Synonyms:
Geographic Location1:  3N, 26E; 0N, 30E  

Sites typed for this population: View List
Population Samples: See Sample Information
External Resources: Ethnologue: Country Description Record    EthnoAtlas: Cultural Overview Record    Ethnologue: Language Description Record    HRAF: Collection of Ethnography Record    Ethnologue: Language Map Record    EthnoAtlas: Cultural Data Record    
References: See references
Population Description: The Mbuti live in the Ituri Forest in the Democratic Republic of the Congo (formerly Zaire). They speak several Nilo-Saharan and Niger-Kordofanian languages usually using the language of the farmers nearest to their band's territory. There is no accurate census for the Mbuti; however, the estimates that exist range from 20,000 to 50,000 people. They are considered to be just one of four populations of Bambuti "Pygmies." The Mbuti, themselves, can be subdivided into several groups based on geographic location and hunting technology. Each group is composed of a number of territorially defined nomadic bands that exist without formal political structure, basing decisions upon the consensus of respected elders. Net-hunter bands are typically large, numbering up to about 100 people, while bow-hunting bands are much smaller. Although many people have settled in villages, some Mbuti still live a traditional existence based on hunting and gathering supplemented by trading meat and labor with nearby farmers in exchange for tobacco and manufactured goods. Despite the importance of this trade, the Mbuti are not considered to have married or intermixed with their farming neighbors to the same extent that other pygmy groups have.
References:
- Putnam P. "The Pygmies of the Ituri Forest". New York, N.Y.: Henry Holt and Company (1948)
Online citation.

- Turnbull CM. "The Mbuti Pygmies: change and adaptation". Orlando, Fla.: Harcourt Brace Jovanovich College Publishers (1983) Online citation.

- Turnbull CM. "The forest people". New York, N.Y.: Simon and Schuster (1962) Online citation.

- Turnbull CM. "The Mbuti Pygmies: an ethnographic survey". New York: American Museum of Natural History (1965) Online citation.



Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Mbuti Pygmies

Sample UID: SA000006G

Sample Description:The sample is composed of Nilosaharan and Niger Kordofanian speaking Mbuti pygmies from the northeastern part of the Ituri Forest (northeastern Democratic Republic of the Congo). It was collected by L.L. Cavalli-Sforza in 1986.

Number of Chromosomes: 78

Relation to Other Samples:

References:
- Bowcock AM, Bucci C, Hebert JM, Kidd JR, Kidd KK, JS Friedlaender, Cavalli-Sforza LL "Study of 47 DNA markers in five populations from four continents.". Gene Geography 1:47. (1987) Online citation.

- Bowcock AM, Hebert JM, Mountain JM, Kidd JR, Rogers J, Kidd KK, Cavalli-Sforza LL. "Study of an additional 58 DNA markers in five populations from four continents". Gene Geography 5:151-73. (1991) Online citation.

- Bowcock AM, Kidd JR, Mountain JL, Hebert JM, Carotenuto L, Kidd KK, Cavalli-Sforza LL. "Drift, admixture, and selection in human evolution: A study with DNA polymorphisms". Proceedings of the National Academy of Science USA 88:839-43. (1991) Online citation.

- Castiglione CM, Deinard AS, Speed WC, Sirugo G, Rosenbaum HC, Zhang Y, Grandy DK, Grigorenko EL, Bonne-Tamir B, Pakstis AJ, Kidd JR, Kidd KK. "Evolution of haplotypes at the DRD2 locus". Am. J. Hum. Genet. 57:1445-56. (1995) Online citation.

- Chang FM, Kidd JR, Livak KJ, Pakstis AJ, Kidd KK. "The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus". Hum. Genet. 98:91-101. (1996) Online citation.

- Kidd JR, Pakstis AJ, Kidd KK. "Global levels of DNA variation". Proceedings of the 4th International Symposium on Human Identification 1993 (Promega) 21-30. (1993)

- Kidd JR. "Population genetics and population history of Amerindians as reflected by nuclear DNA variation". Ph.D. dissertation, Yale University (1993)

- Kidd KK et al. http://info.med.yale.edu/genetics/kkidd/pops.html

- Kidd KK, Morar B, Castiglione CM, Zhao H, Pakstis AJ, Speed WC, Bonne-Tamir B, Lu RB, Goldman D, Lee C, Nam YS, Grandy DK, Jenkins T, Kidd JR. "A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus". Hum. Genet. 103:211-27. (1998) Online citation.

- Mateu E, Calafell F, Bonne-Tamir B, Kidd JR, Casals T, Kidd KK, Bertranpetit J. "Allele Frequencies in a Worldwide Survey of a CA Repeat in the First Intron of the CFTR Gene". Human Heredity 49:15-20. (1999) Online citation.

- Palmatier MA, Kang AM, Kidd KK. "Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles". Biol. Psychiatry. 46:557-67. (1999) Online citation.

- Tishkoff SA, Dietzsch E, Speed W, Pakstis AJ, Cheung K, Kidd JR, Bonne-Tamir B, Santachiara-Benerecetti AS, Moral P, Watson E, Krings M, Paabo S, Risch N, Jenkins T, Kidd KK. "Global patterns of linkage disequilibrium at the CD4 locus and modern human origins". Science 271:1380-7. (1996) Online citation.

- Tishkoff SA, Goldman A, Calafell F, Speed WC, Deinard AS, Bonne-Tamir B, Kidd JR, Pakstis AJ, Jenkins T, Kidd KK. "A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations". Am. J. Hum. Genet. 62:1389-402. (1998) Online citation.

- Tishkoff SA, Goldman A, Calafell F, Speed WC, Deinard AS, Bonne-Tamir B, Kidd JR, Pakstis AJ, Jenkins T, Kidd KK. "A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations". Am. J. Hum. Genet. 62:1389-402. (1998) Online citation.

- Tishkoff SA, Ruano G, Kidd JR, Kidd KK. "Distribution and frequency of a polymorphic Alu insertion at the plasminogen activator locus in humans". Hum. Genet. 97:759-64. (1996) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Mbuti Pygmies

Sample UID: SA000483P

Sample Description:This sample consists of Mbuti Pygmy individuals.

Number of Chromosomes: 10

Relation to Other Samples:

References:
- Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T, Rogers AR. "Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data.". Am. J. Hum. Genet. 57:523-538. (1995) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Pygmy-Zaire

Sample UID: SA000519P

Sample Description:The sample is composed of Nilosaharan and Niger Kordofanian speaking Mbuti pygmies from the northeastern part of the Ituri Forest. It was collected by L.L. Cavalli-Sforza in 1986.

Number of Chromosomes: 34

Relation to Other Samples: Subset of SA000006G

References:
- Bowcock AM, Bucci C, Hebert JM, Kidd JR, Kidd KK, JS Friedlaender, Cavalli-Sforza LL "Study of 47 DNA markers in five populations from four continents.". Gene Geography 1:47. (1987) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Mbuti

Sample UID: SA001804N

Sample Description:The sample is composed of Nilosaharan and Niger Kordofanian speaking Mbuti pygmies from the northeastern part of the Ituri Forest (northeastern Democratic Republic of the Congo). It was collected by L.L. Cavalli-Sforza in 1986.

This sample is a subset of SA000006G

Number of Chromosomes: 48

Relation to Other Samples: Subset of SA000006G

References:
- Verdu P, Barreiro LB, Patin E, Gessain A, Cassar O, Kidd JR, Kidd KK, Behar DM, Froment A, Heyer E, Sica L, Casanova J-L, Abel L, Quintana-Murci L. "Evolutionary Insights into the High Worldwide Prevalence of MBL2 Deficiency Alleles". Hum Mol Genet. 15:2650-2658. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Mbuti

Sample UID: SA001673R

Sample Description:This sample consists of Mbuti living in the Ituri Forest in Central Africa.

Number of Chromosomes: 40

Relation to Other Samples:

References:
- Shriver MD, Mei R, Parra EJ, Sonpar V, Halder I, Tishkoff SA, Schurr TG, Zhadanov SI, Osipova LP, Brutsaert TD, Friedlaender J, Jorde LB, Watkins WS, Bamshad MJ, Gutierrez G, Loi H, Matsuzaki H, Kittles RA, Argyropoulos G, Fernandez JR, Akey JM, Jones KW. "Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation". Hum Genomics. 2:81-89. (2005) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Mbuti Pygmies, HGDP-CEPH

Sample UID: SA001466R

Sample Description:This sample is part of the Human Genome Diversity Cell Line Panel collected by the Human Genome Diversity Project (HGDP) and the Foundation Jean Dausset (CEPH).

The sample is composed of Nilosaharan and Niger Kordofanian speaking Mbuti pygmies from the northeastern part of the Ituri Forest (northeastern Democratic Republic of the Congo). It was collected by L.L. Cavalli-Sforza in 1986.

Note: In many publications subset H952 of the HGDP panel (with first and second degree relatives excluded from the original set) was typed and for this population that decreases the sample size from 15 to 13 individuals. Studies that typed H971 subset with only the first degree relatives excluded the sample size decreases from 15 to 13 individuals.

Number of Chromosomes: 30

Relation to Other Samples: Subset of SA000006G

References:
- Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW. "Genetic structure of human populations". Science 298:2381-2385. (2002) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Pygmy

Sample UID: SA002940P

Sample Description:This sample consists of male Pygmy individuals.

Number of Chromosomes: 20

Relation to Other Samples:

References:
- Shi H, Tan SJ, Zhong H, Hu W, Levine A, Xiao CJ, Peng Y, Qi XB, Shou WH, Ma RL, Li Y, Su B, Lu X "Winter temperature and UV are tightly linked to genetic changes in the p53 tumor suppressor pathway in Eastern Asia". Am J Hum Genet. 84:534-41.. (2009) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Pygmy

Sample UID: SA002025J

Sample Description:This sample consists of Pygmy individuals.

Number of Chromosomes: 64

Relation to Other Samples:

References:
- Nakajima T, Wooding S, Sakagami T, Emi M, Tokunaga K, Tamiya G, Ishigami T, Umemura S, Munkhbat B, Jin F, Guan-Jun J, Hayasaka I, Ishida T, Saitou N, Pavelka K, Lalouel JM, Jorde LB, Inoue I. "Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world". Am J Hum Genet 74:898-916. (2004) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Mbuti Pygmy

Sample UID: SA002348R

Sample Description:This sample consists of Mbuti Pygmies.

Number of Chromosomes: 40

Relation to Other Samples:

References:
- Su B, Jin L, Hu F, Xiao J, Luo J, Lu D, Zhang W, Chu J, Du R, Geng Z, Qiu X, Xue J, Tan J, O'Brien SJ, Chakraborty R "Distribution of two HIV-1-resistant polymorphisms (SDF1-3'A and CCR2-64I) in East Asian and world populations and its implication in AIDS epidemiology". Am J Hum Genet. 65:1047-53. (1999) Online citation.

- Su B, Sun G, Lu D, Xiao J, Hu F, Chakraborty R, Deka R, Jin L "Distribution of three HIV-1 resistance-conferring polymorphisms (SDF1-3'A, CCR2-641, and CCR5-delta32) in global populations". Eur J Hum Genet. 8:975-9. (2000) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Mbuti pygmies

Sample UID: SA003311I

Sample Description:This sample consists of Mbuti Pygmies.

Note: This sample information is not fully curated. For additional information about the sample, consult the publications under "References". The sample was entered as part of data submission by Eisenberg DA.

Number of Chromosomes: 62

Relation to Other Samples:

References:
- Eisenberg DA, Kuzawa, CW, Hayes MG "Worldwide allele frequencies of the human apolipoprotein E (APOE) gene: climate, local adaptations and evolutionary history". American Journal of Physical Anthropology 143:100-11. (2010) Online citation.

- Gelernter J, Kranzler H, Lacobelle J. "Population studies of polymorphisms at loci of neuropsychiatric interest (tryptophan hydroxylase (TPH), dopamine transporter protein (SLC6A3), D3 dopamine receptor (DRD3), apolipoprotein E (APOE), mu opioid receptor (OPRM1), and ciliary neurotrophic factor (CNTF)).". Genomics. 52:289-97. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Mbuti Pygmy

Sample UID: SA003740O

Sample Description:This sample consists of Mbuti Pygmy from the Democratic Republic of the Congo.

Number of Chromosomes: 50

Relation to Other Samples:

References:
- Watkins WS, Rogers AR, Ostler CT, Wooding S, Bamshad MJ, Brassington AM, Carroll ML, Nguyen SV, Walker JA, Prasad BV, Reddy PG, Das PK, Batzer MA, Jorde LB. "Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms". Genome Res 13:1607-18. (2003) Online citation.

- Xing J, Watkins WS, Shlien A, Walker E, Huff CD, Witherspoon DJ, Zhang Y, Simonson TS, Weiss RB, Schiffman JD, Malkin D, Woodward SR, Jorde LB. "Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping". Genomics 96:199-210. (2010) Online citation.

- Xing J, Watkins WS, Witherspoon DJ, Zhang Y, Guthery SL, Thara R, Mowry BJ, Bulayeva K, Weiss RB, Jorde LB. "Fine-scaled human genetic structure revealed by SNP microarrays". Genome Res. 19:815-25. (2009) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Mbuti Pygmy

Sample UID: SA004687Z

Sample Description:This sample consists of Mbuti individuals from Central Africa. Written informed consent was obtained from all individuals. This sample is part of Caixia Li's group in Institute of Forensic Science, Beijing, China. It was provided by the Kenneth K. Kidd's laboratory to Caixia lab.

Number of Chromosomes: 74

Relation to Other Samples:

References:
- Jiang L, Wei YL, Zhao L, Li N, Liu T, Liu HB, Ren LJ, Li JL, Hao HF, Li Q, Li CX. "Global analysis of population stratification using a smart panel of 27 continental ancestry-informative SNPs". Forensic Sci Int Genet. 35:e10-e12. (2018) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: MbutiPygmies

Sample UID: SA004361O

Sample Description:This sample consists of Mbuti individuals. This sample is part of Kiddlab sample collection and is subset of SA000006G.

Number of Chromosomes: 38

Relation to Other Samples: Subset of SA000006G

References:
- Kenneth K. Kidd et al. "Data unpublished".


1Geographic Coordinates represent two opposite corners of a rectangle encompassing the area where the population lives.This data is preliminary and changing.

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© 2019 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan