The causal element for the persistence/ non-persistance polymorphism is located in a 1Mb region of linkage disequilibrium in Europeans  

Poulter et al   (2003)  Ann. Hum. Genet. 67:298-311



Supplementary information

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Numbered markers not previously published


Polymorphic bases are in red capitals. The sequence is the + strand to lactase except where indicated

Single base polymorphism
 are represented using IUB codes, (K= G or T, M= A or C, R= A or G, S= G or C, W=A or T, Y= C or T )

Marker 1 and 2:


  1  atggttctaa tggctccaac tcaggttaga gaggcaggaa attgtggtgg     
 51  taggaagttg gtactctgaa t Rtacatgct agagtt Ygaa tccagtttct    
101  accattttct gtctgacctt gagtaagtta cttagcctct gtgtgcctca    
151  atttagtttc cccctttgta aaatagggaa aatggtaata gtatctactt    
201  catggggctg ttgggaagac aaacaagaca atttatacca agcagttgac    
251  atagtgcttg acatataata aatacttagt aaaatgtgat tgctattgca    
301  ttatcatgaa accaccat


Marker 1 a/g June 2002 freeze 134865865
Marker 2 t/c June 2002 freeze 134865850


Markers 3 and 4:

  1  agtctggatc cagaaaatct gccacgaggt tgactttctt tggatatact     
 51  ttgtgaattt ccctttcatc catatgaaat tagtaaaaat ccacctacaa    
101  atttttcatc acaaaataaa gtgtgccttt tccaatcatt cctggaccgt    
151  ctgttgctac ttgagtgatt tgcccatc Rt gtaatggaga ctggttccct    
201  gttacatcac taaccataag cttgaggaag tcagtcctat aaatatgcta    
251  ctcaggcac R aataaacggg tcaatgacaa caggtgctga gacttcagag    
301  tcagatatac gaaggctgcc atga

Marker 3 a/g June 2002 freeze nt 134668480
marker 4 a/g June 2002 freeze nt 134668399


Markers 5 and 6:
 
     1  aagggttatc agcagctatt gttttaatgt ttctcaattt gcactgttta     
 51  ggggaggaaa tggtcctctc ctttatggca ccaattcatt aaaacatatt    
101  ggcctctttc cccaggatcc Rgaataattt gccatttatg aaatgtcctc    
151  tcttcataca atctgtgcaa atactaagtt atacatttga agttca Ygac    
201  ccctttatgt tcccagctct ccctctccca caatttgctg agctgtaggg    
251  caggaaaaac ccctgtgaag cgctgtgcgg gaggatccag gcatgcctat    
301  cttcccctcc caaacaaacg gggtctcact gttagaatta agaatggccc    
351  atcctgcacc acccccttcc cccgcttcca caatcctgct cttctctaac    
401  cccttattaa ggaaacaatg aggcaaatac accaggatat tc

Marker 5 a/g June 2002 freeze 134581096
Marker 6 t/c June 2002 freeze 134581014

 
Marker 7:

  1  ctgggattat aggcatgctg gccattcact gcccccaccc atagttttcc     
 51  ttggtattat ccttttagca cctgaaaaca aaaacaaatt tcagtatgta    
101  taagacactc cactaatacc aaaccgtgaa gatggccatg tcggccttcc    
151  ctatacaaag atacttggcc tagagggggg aaccaaccac atgtcatcag    
201  ctcctgcctt cattgctgta tgcttcgtgg tggcccttaa tacttgggca    
251  agagacctgt tactcaacct caatttccac tcattgtaaa atcaaaggca    
301  gcaggaacct caaaccacag gcccaacttt ctagccaggt ttgcagagct    
351  tcttcagaag ccagggtcag aattaggtgt gcttcttctc caagctgtgg    
401  gcttgtgaat gtagaatggg aacaccctca tcccgccttc cacagtggct    
451  tcttcctcaa gtgcccaatg ctggatctga ctcagctatg gagggtgagg    
501  agcagaggga cagtggccgt tggtggtggc aagggggaag tgacaaaggg    
551  aaacgc Ragg gttggtggca acagcagaag tgatgactgg cagcacatga    
601  tgtggtgaag gggtgatgcc gtgactgtca caccccactg tgacaggagg    
651  cttgtttgcc acacctttat ccggatccat tcaagggaca ggcagat  

Marker 7 a/g June 2002 freeze 134420826


Marker 8:

  1  attgttaagg ctgcagcctc ctgaaccccc accccaaaac tcctgaatga   
 51  gcatttcctt tttattattg ttttatattt tactttaagt tctgggatac    
101  atgtactgaa catgcaagtt tgttacatag gtatacatgt ccatggtggt    
151  ttgctgcacc tatcaaccca tcatctaggt tttaagcccc acatgcatta    
201  ggtatttgtc ctaatcctct ccctcccctt acctcccacc cccgacaggc    
251  cctggtgtgt gacgttcccc tccctgtgtc catgtgttct cattgttcaa    
301  ctcccacttt t Sagtgagaa catgcagtgt ttggttttct gttcctgtgt    
351  tagtttgctg agaatgatgg tttccagctt catccatgtc cccgcaaagg    
401  acaggaactc ctaaatgagc atttctgagg ggggacaatc tgtaaatttg    
451  cacactaaac aagctcttca tgggattctg atacaggtgg ttcttaagat    
501  ctcgctttca gaaaaccacc cgaacataat tttgttgctt ggaaatttga    
551  agttgcttgt ccttcaacgt tgac

Marker 8 g/c June 2002 freeze nt 134419949


Marker 9:

Polymorphic base is a red capital. This sequence is the + strand relative to lactase.
p1f-r1.seq  Length: 656  July 20, 2000 12:58  Type: N  Check: 9249  ..      

  1  actagtagta taacagttgg atgcaaggaa aaatgtttct atttctagtt    
 51  ccagttaagt tcagatactt gataattcat ttgatacaaa ttttaactaa    
101  caatgccaca ttaactttca cataagtaag acagttttat aaaatgattg    
151  actgatactt tatttaaatt gtcattctta gattactctt tgcagaattt    
201  tggttaattg tgaagctgaa atatcctgac tctacctcaa agttaatgtt    
251  ttaggtaact gaacaggtat tcttcccatt actagtattg aagtcagaat    
301  acagaaacaa attaattatg gaactggctc taaggctaca agctttatag    
351  agtaaaccaa atgtcagcaa tttagtttta gtgaaattaa aaattaatat    
401  tacttattaa tttgaatttt gtttttattt aaaaatttat ttctatttta    
451  aagttaaggg ctataagcat aagcatttac agtagtttgg tatttgtagg    
501  tctttaagta acatgacaga acttatttaa gtgattaatg gggtttgctg    
551  acatttttt R ttccactaaa gagaacctat agagtagttt tagaactgct    
601  ggtctgtgcc ttgttgagta gtgcatactt ctcaccacgc ttattttgga    
651  tcagct

 Marker 9 a/g nt 134370199    June 2002 freeze

Marker 15:

  1  acggaaacaa cagttctgtt ccttcttacc tgtcggacct tgtgaattct
 51  tgtaacaag Y tcatctgcag aaacacttcc tgctattact tccaagggaa
101  ttccactgtc tccaataaag aaactggatg gaacacacac

Marker 15 c/t June 2002 freeze nt 134166692


Marker 16:

  1  ctcagcattt tacttgtaaa tattttc Rgt atacaaacat ttatatctaa
 51  tggataactc cttttttttt tttaattttt gagacagagt cttgctctgt
101  cacacaggct ggagtgcagt ggcaccatct ctgctcactg caacctctgc
151  ctcccaggtt caagcgattc tcttgcctca gcttcctaag tagctgggat
201  tacaggtgcc caccaccatg tccagctaat ttttttcaaa tatggagata
251  agattatagt cagca

Marker 16 a/g June 2002 freeze 134131975


Marker 17:

     1  tggtgctgca atagcaattt gaaaattaca ttaccatttg ttaccacacc     
 51  cccttgacac actaattccc caacttattt acaatagaat atggaaagtc    
101  aatagtgaaa ttttttaatt caaatagcaa tagtatttta caaacctatc    
151  aagccttgtt tatcactgta atattctcaa gaatgggaaa aacaaaactg    
201  ctaccaattt tcactacttt atttctgaga aattaaaact taatactaac    
251  tcaaatggat gtaattaggt ata Ytaaagt accagttcaa aaaagaagaa    
301  aaaaaaccct attacttgca aggcatggca atgcacatct tctgcataat    
351  atttgacaaa gcttatttca agtttatata attttctatt gctactgtca    
401  tgtaagacct ctttggagaa gcacccattt gtaccaggtt caatg

Marker 17 nt 133937294 on June  2002 freeze


Marker 18:
Polymorphic base is a red capital. This sequence is in anti-sense orientation vis a vis LCT

     1  aatactctct aggcccaatg Ytctctaacc acaattagtg aacagtgtta
 51  aaaaaaagaa tagagaaagt attcacttcc tcagtttgac aagaacaaga
101  tttcatactg catacattta tgtatttatt atggaattat agcctttgaa
151  aaactaaaca ccacaaataa tgaggaattc attttactat aagtaataat
201  taagtatatg cccttaaaat agcatatcct ataagtagct gc

Marker 18 c/t June 2002 freeze 133702512