ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
LactaseLO000296RLCT22q21
Synonyms:
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   GenBank sequence   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: The protein encoded from the LCT gene has both lactase (EC 3.2.1.23) and phlorizin hydrolase (EC 3.2.1.62) activities. Lactase-phlorizin hydrolase (LPH) is a major small intestinal microvillar membrane glycoprotein that digests lactose, the main carbohydrate of milk. Adult-type hypolactasia, also known as lactase non-persistence (lactose intolerance), is a common autosomal recessive condition resulting from the physiological decline in activity of the LPH in intestinal cells after weaning and is present in up to 15 percent of the northern European descent, up to 80 percent of blacks and Latinos, and up to 100 percent of American Indians and Asians (reviewed by Swagerty et al., 2002) [PubMed ID: 12018807]. The complete primary structure of human LPH has been established by cDNA cloning and sequencing by Mantei et al. (1988) [PubMed ID: 2460343]. Kruse et al. (1988) [PubMed ID: 3142790] assigned the LCT locus to chromosome 2 by the analysis of Southern blots of DNA from a human-rodent cell hybrid panel. For the completed SNP list (as of 2002) on the LCT locus, please visit the NCBI dbSNP at http://www.ncbi.nlm.nih.gov/SNP/.
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)		dbSNP rs#
(Navigates to dbSNP
reference page)		Chr-PositionStatus# Populations
typed
4-site haplotype   08
D2S3013 STRP   05
C__25601906_10rs3213892   13626898754
TG6236/7Drs10552864   13654545212
T5579Crs2278544   13654611012
rs4954633rs4954633   13654663570
LCT gene LI SNPs 3-site haplotypers3213892   1365525170
E_rs1807356_10rs1807356   13655548456
rs2322659rs2322659   13655565978
rs3769013rs3769013   13655618250
C___2104675_20rs748841   13655815741
C__15974400_10rs2304370   13656173585
C__25952483_10rs12988076   13656984841
C__25601938_10rs6719488   13657519940
rs2874874rs2874874   13657819478
rs2164210rs2164210   13658028750
rs730005rs730005   13658269450
rs3769008rs3769008   13658618350
C___2140125_10rs10186843   13658695840
rs3754690rs3754690   13659055878
C___2104738_10rs3754689   13659074685
rs11903319rs11903319   13659643977
A8 -552 to-559 A9    12
C458intT   10
G-875A   12
A-678G   12
A-946G   10
C-958T   12
C-942G   10
TC-942/3D   10
11-site haplotype   10

References:
- Hollox EJ, Poulter M, Zvarik M, Ferak V, Krause A, Jenkins T, Saha N, Kozlov AI, Swallow DM. "Lactase Haplotype Diversity in the Old World ". Am. J. Hum. Genet. 68:160-172. (2001) Online citation.

- Kruse TA, Bolund L, Grzeschik KH, Ropers HH, Sjostrom H, Noren O, Mantei N, Semenza G. "The human lactase-phlorizin hydrolase gene is located on chromosome 2". FEBS Lett. 240:123-6. (1988) Online citation.

- Mantei N, Villa M, Enzler T, Wacker H, Boll W, James P, Hunziker W, Semenza G. "Complete primary structure of human and rabbit lactase-phlorizin hydrolase: implications for biosynthesis, membrane anchoring and evolution of the enzyme". EMBO J. 7:2705-13. (1988) Online citation.

- Swagerty DL Jr, Walling AD, Klein RM. "Lactose intolerance". Am. Fam. Physician 65:1845-50. (2002) Online citation.

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© 2012 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