Polymorphisms flanking the insulin minisatellite

The sequence shown from 3´ tyrosine hydroxylase (TH) to 5´ IGF2 is derived from sequence L15440 published by Lucassen et al. (1993) and was resequenced to identify novel polymorphisms.

Pink text shows the sequences directly flanking and including the minisatellite and was not resequenced.

Red text indicates positions polymorphic in humans

Blue text indicates exons

Primer sites are underlined (primer names in green).

Translated regions are indicated below the sequence, with amino acid abbreviations aligned to the first position of each codon

To download a pdf version of this page, click here

               5F1                                    INS-1C/T
1      GAGCAGGGCTGGACCTGTGAGCCCAGGTCACAGATGAGAAAACCGACCCCTGGYTGCAGC   60

61     AGCCCCCACACAGCAGGGACACCATCCGTGAGAAGGACCCCAGCGTCTGGGGAGGGGCAG   120

121    ACCTACAGGACTGGGGGCTGCTGGGTGGCCGGGTCAAGGCCAGTCTTGGAGGTGCTGACA   180

                      
INS-2A/G                    INS-3C/T
181    GAGCCTGAGCTTTGTGAGGACRTCCTGTGGAACCTGTCCCGGCCCCCTGYCCTGGGATGG   240

241    GGAGAAGTCAGGGGGATAGACAGAGTCAAGGTGGGGGACAGGGCGGGAGTGGGGTCCCCA   300

301    GGGCTGGGGGCCTTTGGTGCAGTGACCAGAGTGTCAGGAGAGGGGAGCAAAGCCCTCTAG   360

361    CCTCATCCTCATAAAAGGTCTCATCATTTTCCCTCCAGCCTCTTATGCACTGGGGAAACT   420

421    GAGGCCAGGGGCTATGTGTCCAGCGGACAGGGGTGCTGAATTCCACCCACAGGCTTAGGG   480

481    ATATGGTCAAGGAAAGCTTCCTGGAGGAGGCCCAGTGGAGGTTCAGGGAGGGATGGGGTG   540

               
5F2
541    CCCGGCAGTCTCTAGTGGAAAAGGCGCCTAGCCTATCTCCCCCATGAACCCCCTCACCCA   600

601    GCCCTGGAAGAGGCCTCAGTGTCCCGCCTGTGACCAGTTGGCTCAGAAAAGCCCTGGGAG   660

            
INS-4C/T
661    CTCTGAGCCACYGTGAAGGTGGAAACGCGGCCCCTGGCCTCCCCTCTCCTGGAGGCTGCA   720

                                                     
TH exon 14
721    GACTCTGCCCGCCAGTTGACGAGGGCTCTGCCGCTCTCCTCCCCAGGAGCTATGCCTCAC   780

                                                     
INS-5C/T
781    GCATCCAGCGCCCCTTCTCCGTGAAGTTCGACCCGTACACGCTGGCCATCGAYGTGCTGG   840

841    
ACAGCCCCCAGGCCGTGCGGCGCTCCCTGGAGGGTGTCCAGGATGAGCTGGACACCCTTG   900

901    
CCCATGCGCTGAGTGCCATTGGCTAGGTGCACGGCGTCCCTGAGGGCCCTTCCCAACCTC   960

961    
CCCTGGTCCTGCACTGTCCCGGAGCTCAGGCCCTGGTGAGGGGCTGGGTCCCGGGTGCCC   1020

                                                     
5F3
1021   CCCATGCCCTCCCTGCTGCCAGGCTCCCACTGCCCCTGCACCTGCTTCTCAGCGCAACAG   1080

1081   
CTGTGTGTGCCCGTGGTGAGGTTGTGCTGCCTGTGGTGAGGTCCTGTCCTGGCTCCCAGG   1140

1141   
GTCCTGGGGGCTGCTGCACTGCCCTCCGCCCTTCCCTGACACTGTCTGCTGCCCCAATCA   1200

   
INS-6A/G
1201   CCRTCACAATAAAAGAAACTGTGGTCTCTACACCTGCCTGGCCCCACATCTGTGCCACAG   1260

  
INS-7C/G
1261   ASACAGACCCTGGGATCCTCAGACTCCCACACCCCCACCCCAGCCTCACTCAGAGGTTTC   1320

1321   GCCCTGGCCTCCTTCCTCCTCTGGGAGATGGCTGGCCGCCCTGGCCAGGCAGCTGGCCCC   1380

1381   TCCGGGCCTGGTTTCCCCGCTCACCCTGAGGCCCCGCCCAGCTCTGAGCCCCAAGCAGCT   1440

1441   CCAGAGGCTCGGGCACCCTGGCCGAGCTGCCCCATCTCCGTGGGGTGCCCTCCCAAGGTG   1500

                                         
INS-9A/C
1501   GGGAGCCACGTGACAGTGGGAGGGCCTCTCTCAGGCCTGGMAGGGAGCAGGGGTCACAAA   1560

1561   CTGTGCTGGCTGGGGGTGGTCTCAGAGGTGGGCCTGCAGGCCTAACCCTCCCTGCTGACA   1620

                    
5F4
1621   GGGCTCCCAGCCCTTGAGAGAAACAGGGATGGAGGAACAGCTGCCCTGATGCCCTCACCC   1680

1681   ACCCGGAGCAGGCCCTGCGAACCAAGGGGAACCTCAGTGTGGCCCCCAGCATGTGTGCTG   1740

1741   ATGGGGAGGGTCTGGCTGAGCTGGTGCCCAGGCAGATGGTCTGGGCCTGTCTCCCCAGCG   1800

1801   AGGCAGGATGGGGGCTGGATTTCAGACTCTGTAAGATGCCCCTGGCTTACTCGAGGGGCC   1860

1861   TGGACATTGCCCTCCAGAGAGAGCACCCAACACCCTCCAGGCTTGACCGGCCAGGGTGTC   1920

1921   CCCTTCCTACCTTGGAGAGAGCAGCCCCAGGGCATCCTGCAGGGGGTGCTGGGACACCAG   1980

                                           
INS-10C/T
1981   CTGGCCTTCAAGGTCTCTGCCTCCCTCCAGCCACCCCACTACAYGCTGCTGGGATCCTGG   2040

            
INS-11C/T
2041   ATCTCAGCTCCCYGGCCGACAACACTGGCAAACTCCTACTCATCCACGAAGGCCCTCCTG   2100

2101   GGCATGGTGGTCCTTCCCAGCCTGGCAGTCTGTTCCTCACACACCTTGTTAGTGCCCAGC   2160

                                 
5F5
2161   CCCTGAGGTTGCAGCTGGGGGTGTCTCTGAAGGGCTGTGAGCCCCCAGGAAGCCCTGGGG   2220

2221   AAGTGCCTGCCTTGCCTCCCCCCGGCCCTGCCAGCGCCTGGCTCTGCCCTCCTACCTGGG   2280

       
INS-12C/T
2281   CTCCCCCYATCCAGCCTCCCTCCCTACACACTCCTCTCAAGGAGGCACCCATGTCCTCTC   2340

2341   CAGCTGCCGGGCCTCAGAGCACTGTGGCGTCCTGGGGCAGCCACCGCATGTCCTGCTGTG   2400

                      
INS-14C/T
2401   GCATGGCTCAGGGTGGAAAGGGYGGAAGGGAGGGGTCCTGCAGATAGCTGGTGCCCACTA   2460

2461   CCAAACCCGCTCGGGGCAGGAGAGCCAAAGGCTGGGTGTGTGCAGAGCGGCCCCGAGAGG   2520

          
INS-16A/G
2521   TTCCGAGGCTRAGGCCAGGGTGGGACATAGGGATGCGAGGGGCCGGGGCACAGGATACTC   2580

2581   CAACCTGCCTGCCCCCATGGTCTCATCCTCCTGCTTCTGGGACCTCCTGATCCTGCCCCT
   2640

            
5F6
2641   GGTGCTAAGAGGCAGGTAGGGGCTGCAGGCAGCAGGGCTCGGAGCCCATGCCCCCTCACC   2700

2701   ATGGGTCAGGCTGGACCTCCAGGTGCCTGTTCTGGGGAGCTGGGAGGGCCGGAGGGGTGT   2760

                                              
INS-17A/T
2761   ACCCCAGGGGCTCAGCCCAGATGACACTATGGGGGTGATGGTGTCAWGGGACCTGGCCAG   2820

2821   GAGAGGGGAGATGGGCTCCCAGAAGAGGAGTGGGGGCTGAGAGGGTGCCTGGGGGGCCAG   2880

                                                           
INS-18A/G
2881   GACGGAGCTGGGCCAGTGCACAGCTTCCCACACCTGCCCACCCCCAGAGTCCTGCCGCCR   2940

             
INS-19C/T                            INS-1296
2941   CCCCCAGATCACAYGGAAGATGAGGTCCGAGTGGCCTGCTGAGGACTTGCTGCTTGTCCC   3000

       
INS-20C/T
3001   CAGGTCCYCAGGTCATGCCCTCCTTCTGCCACCCTGGGGAGCTGAGGGCCTCAGCTGGGG   3060

3061   CTGCTGTCCTAAGGCAGGGTGGGAACTAGGCAGCCAGCAGGGAGGGGACCCCTCCCTCAC   3120

    
INS-21A/C                          5R1
3121   TCCCMCTCTCCCACCCCCACCACCTTGGCCCATCCATGGCGGCATCTTGGGCCATCCGGG   3180

3181   
A
                    CT
       GGGGACAGGGGTCCT
       GGGGACAGGGGTCC
       GGGGACAGGGTCCT
       GGGGACAGGGGTGT
       GGGGACAGGGGTCT
       GGGGACAGGGGTGT
       GGGGACAGGGGTGT
       GGGGACAGGGGTCT
       GGGGACAGGGGTGT
       GGGGACAGGGGTCC
       GGGGACAGGGGTGT
       GGGGACAGGGGTCT
       GGGGACAGGGGTGT
       GGGGACAGGGGTGT
       GGGGACAGGGGTCT
       GGGGACAGGGGTGT
       GGGGACAGGGGTCCT
       GGGGACAGGGGTGT
       GGGGACAGGGGTGT
       GGGGACAGGGGTGT
       GGGGACAGGGGTGT
       GGGGACAGGGGTCCT
       GGGGATAGGGGTGT
       GGGGACAGGGGTGT
       GGGGACAGGGGTCCC
       GGGGACAGGGGTGT
       GGGGACAGGGGTGT
       GGGGACAGGGGTCCT
       GGGGACAGGGGTCT
       GAGGACAGGGGTGT
       GGGCACAGGGGTCCT
       GGGGACAGGGGTCCT
       GGGGACAGGGGTCCT
       GGGGACAGGGGTCT
       GGGGACAG
                                                        
3F1
3676                  CAGCGCAAAGAGCCCCGCCCTGCAGCCTCCAGCTCTCCTGGTCTA   3720

3721   ATGTGGAAAGTGGCCCAGGTGAGGGCTTTGCTCTCCTGGAGACATTTGCCCCCAGCTGTG   3780

3781   AGCAGGGACAGGTCTGGCCACCGGGCCCCTGGTTAAGACTCTAATGACCCGCTGGTCCTG   3840

3841   AGGAAGAGGTGCTGACGACCAAGGAGATCTTCCCACAGACCCAGCACCAGGGAAATGGTC   3900

3901   CGGAAATTGCAGCCTCAGCCCCCAGCCATCTGCCGACCCCCCCACCCCAGGCCCTAATGG   3960

                   
INS-24C/G     INS-25A/G
3961   GCCAGGCGGCAGGGGTTGASAGGTAGRGGAGATGGGCTCTGAGACTATAAAGCCAGCGGG   4020

4021   GGCCCAGCAGCCCTCAGCCCTCCAGGACAGGCTGCATCAGAAGAGGCCATCAAGCAGGTC   4080

                                         
INS exon 1
   
INS-69+/-                          INS-26A/G 
4081
   TTTGCGTTCCAAGGGCCTTTGCGTCAGGTGGGCTCAGGRTTCCAGGGTGGCTGGACCCCAGGCC  4140

                                   
3F2
4141   CCAGCTCTGCAGCAGGGAGGACGTGGCTGGGCTCGTGAAGCATGTGGGGGTGAGCCCAGG   4200

                                                               
INS exon 2
                                                  
INS-27A/T     INS-23+/-
4201   GGCCCCAAGGCAGGGCACCTGGCCTTCAGCCTGCCTCAGCCCTGCCTGTCWCCCAGATCA   4260

    
INS-72C/T                                   INS-70A/G
4261   CTGTYCTTCTGCCATGGCCCTGTGGATGCGCCTCCTGCCCCTGCTGGCRCTGCTGGCCCT   4320
                    
M  A  L  W  M  R  L  L  P  L  L  A  L  L  A  L

4321   CTGGGGACCTGACCCAGCCGCAGCCTTTGTGAACCAACACCTGTGCGGCTCACACCTGGT   4380
        
W  G  P  D  P  A  A  A  F  V  N  Q  H  L  C  G  S  H  L  V

                
3R4                          3F8
4381   GGAAGCTCTCTACCTAGTGTGCGGGGAACGAGGCTTCTTCTACACACCCAAGACCCGCCG   4440
        
E  A  L  Y  L  V  C  G  E  R  G  F  F  Y  T  P  K  T  R  R

                           INS intron 1
                      
        INS-28C/T
4441   GGAGGCAGAGGACCTGCAGGGTGAGCCAACYGCCCATTGCTGCCCCTGGCCGCCCCCAGC   4500
        
E  A  E  -  -  -

4501   CACCCCCTGCTCCTGGCGCTCCCACCCAGCATGGGCAGAAGGGGGCAGGAGGCTGCCACC   4560

4561   CAGCAGGGGGTCAGGTGCACTTTTTTAAAAAGAAGTTCTCTTGGTCACGTCCTAAAAGTG   4620

                     
3F3
4621   ACCAGCTCCCTGTGGCCCAGTCAGAATCTCAGCCTGAGGACGGTGTTGGCTTCGGCAGCC   4680

                        
INS-31C/T
4681   CCGAGATACATCAGAGGGTGGGCAYGCTCCTCCCTCCACTCGCCCCTCAAACAAATGCCC   4740

4741   CGCAGCCCATTTCTCCACCCTCATTTGATGACCGCAGATTCAAGTGTTTTGTTAAGTAAA   4800

                                              
INS-32C/T
4801   GTCCTGGGTGACCTGGGGTCACAGGGTGCCCCACGCTGCCTGCCTCYGGGCGAACACCCC   4860

4861   ATCACGCCCGGAGGAGGGCGTGGCTGCCTGCCTGAGTGGGCCAGACCCCTGTCGCCAGGC   4920

4921   CTCACGGCAGCTCCATAGTCAGGAGATGGGGAAGATGCTGGGGACAGGCCCTGGGGAGAA   4980

4981   GTACTGGGATCACCTGTTCAGGCTCCCACTGTGACGCTGCCCCGGGGCGGGGGAAGGAGG   5040

                                      
INS-34C/G          3F4
5041   TGGGACATGTGGGCGTTGGGGCCTGTAGGTCCACACCCASTGTGGGTGACCCTCCCTCTA   5100

                                    
INS-35C/T
5101   ACCTGGGTCCAGCCCGGCTGGAGATGGGTGGGAGTGYGACCTAGGGCTGGCGGGCAGGCG   5160

                                                
INS-36A/G
5161   GGCACTGTGTCTCCCTGACTGTGTCCTCCTGTGTCCCTCTGCCTCGCCRCTGTTCCGGAA   5220

           
INS-37C/T             INS exon 2
5221   CCTGCTCTGCGYGGCACGTCCTGGCAGTGGGGCAGGTGGAGCTGGGCGGGGGCCCTGGTG   5280
                                 
V  G  Q  V  E  L  G  G  G  P  G  A

5281   CAGGCAGCCTGCAGCCCTTGGCCCTGGAGGGGTCCCTGCAGAAGCGTGGCATTGTGGAAC   5340
         
G  S  L  Q  P  L  A  L  E  G  S  L  Q  K  R  G  I  V  E  Q

5341   AATGCTGTACCAGCATCTGCTCCCTCTACCAGCTGGAGAACTACTGCAACTAGACGCAGC
   5400
         
C  C  T  S  I  C  S  L  Y  Q  L  E  N  Y  C  N

 
INS-38C/T     INS-39A/C
5401   CYGCAGGCAGCCCCMCACCCGCCGCCTCCTGCACCGAGAGAGATGGAATAAAGCCCTTGA   5460

5461   
ACCAGCCCTGCTGTGCCGTCTGTGTGTCTTGGGGGCCCTGGGCCAAGCCCCACTTCCCGG   5520

                                                      
3F5
5521   CACTGTTGTGAGCCCCTCCCAGCTCTCTCCACGCTCTCTGGGTGCCCACAGGTGCCAACG   5580

                                                 
INS-40C/T
5581   CCGGCCAGGCCCAGCATGCAGTGGCTCTCCCCAAAGCGGCCATGCCTGTYGGCTGCCTGC   5640

                                      
INS-41G/T
5641   TGCCCCCACCCTGTGGCTCAGGGTCCAGTATGGGAGCTKCGGGGGTCTCTGAGGGGCCAG   5700

  
INS-42A/G
5701   GGRTGGTGGGGCCACTGAGAAGTGACTTCTTGTTCAGTAGCTCTGGACTCTTGGAGTCCC   5760

5761   CAGAGACCTTGTTCAGGAAAGGGAATGAGAACATTCCAGCAATTTTCCCCCCACCTAGCC   5820

5821   CTCCCAGGTTCTATTTTTAGAGTTATTTCTGATGGAGTCCCTGTGGAGGGAGGAGGCTGG   5880

5881   GCTGAGGGAGGGGGTCCTGCAGGGCGGGGGGCTGGGAAGGTGGGGAGAGGCTGCCGAGAG   5940

5941   CCACCCGCTATCCCCAGCTCTGGGCAGCCCCGGGACAGTCACACACCCTGGCCTCGCGGC   6000

                                                  
3F6
6001   CCAAGCTGGCAGCCGTCTGCAGCCACAGTATGCCAGCCCAGGTCCAGCCAGACACCTGAG   6060

                
3F6-NEST
6061   GGACCCACTGGTGCCTTGGAGGAAGCAGGAGAGGTCAGATGGCACCATGAGCTGGGGCAG   6120

6121   GTGCAGGGACCGTGGCAGCACCTGGCAGGGCCTCAGAACCCATGCCTTGGGCACCCCGGC   6180

                 
3R5          3R3
6181   CATGAGGCCCTGAGGATTGCAGCCCAGGAGAAGCAGGGAACCGCCAGGGCCACAGGGGCA   6240

       
INS-43C/G                     INS-45C/T
6241   GAGACCASGGCCAGGGTCCCCCTGCAGCCCCTTAGCCYACCCCCTCCCAGTAAGCAGGGC   6300

6301   TGCTTGGCTGGCTTCCTTTGCTACAGACCTGCTGCTCACCCAGAAGGGCCCACGGGCCCT   6360

6361   GGTGACAAGGTCGTTGTGGCTCCAGGTCCTTGGGGGTCCTGACACAGAGCCTCTTCTGCA   6420

6421   GCACCCCTGAGGACAGGGTGGCTCCGCTGGGCACCCAGCCTAGTGGGCAGACGAGAACCT   6480

6481   AGGGGCTGCCTGGGCCTACTGTGGCCTGGGAGGTCAGCGGGTGACCCTAGCTACCCTGTG   6540

6541   GCTGGGCCAGTCTGCCTGCCACCCAGGCCAAACCAATCTGCACCTTTCCTGAGAGCTCCA   6600

   
INS-49A/T  INS-71+/-
6601   CCCWGGGCTGGGCTGGGGATGGCTGGGCCTGGGGCTGGCATGGGCTGTGGCTGCAGACCA   6660

6661   CTGCCAGCTTGGGCCTCGAGGCCAGGAGCTCACCCTCCAGCTGGGGACCTGGCCACTGGG   6720

6721   GCAGCCCTGTTCCTGAAGCTCTGAGCTCACCCCTTCCCCATGACCACATCAGCCCCCCTC   6780

6781   CACCCAGAGATGTCACAGCCCCCAGCTAGCCCCGCCTCCAGAGTGGGGGCCAAGGCTGGG   6840

                                   
IGF2 exon 1 (5´UTR)
6841   CAGGCGGGTGGACGGCCGGACACTGGCCCCGGAAGAGGAGGGAGGCGGTGGCTGGGATCG   6900

6901   
GCAGCAGCCGTCCATGGGAACACCCAGCCGGCCCCACTCGCACGGGTAGAGACAGGGGCG   6960

                
3F7         IGF2 Intron 1
6961   CCCTGCTGGAGCTGAGGTATGTGAGCTCGCGCGGGGCTGGGCCAAAGCGGGGCCCGGTGG   7020

                                       
3R2
7021   GCCGGCTGGGAGGCTGCCCACCAGTCAGCCATCGGCCAAGCTGTTGCCCTGGCTGACCCT   7080

                                        
INS-51C/G
7081   GATGGCCAACAAGGCCGTAGGGAGTGATGGGCAGAGGCCCSTTCTGGGAGGGGAGGGTCA   7140

                   
INS-52A/G
7141   GTGCTCTGTGGGGGACCGTRTGTTGGAGTGGAGGGCAGCAGGAGGAGCCCTTTGGTGTCC   7200

7201   AGGGACTCCTGGAGCTGCCCCAGCCTTCCAGGACTTGCAGGGCAGCTGGCACTGGCTGGT   7260

        
INS-53A/C     INS-54C/T
7261   GCTGGGGGMTGAGGAGTGTCTTYTGAGGGGCCAAATTTTCTGTGACTTCTGTCCTGGGGG   7320

                                  
INS-73C/T
7321   ACCTCTGACCTGAGGCCTCAGGAGAGGGCAAGGCYGCCCACCCAAAAGAGATGCAGCCAT   7380

                           
INS-56A/G
7381   GGTTCGCGGTGCCCTCGGCTGCCCTGGRCCAGAGCTGGGGCTAGCTTTCACCTTGTTGAG   7440

                                       
INS-74A/G
7441   ACCCAGGACTCTGTCCCCCAAGCCTGTCTTCGCCAGCRCCTTGACCCCACCCCTCATATA   7500

                                
INS-57A/G
7501   CTGTGTCCTGGAAAACGTGGACACGGGAGACCRCAGCCAGGGCGAGGTATCGCCCCTCCA   7560

                     
INS-60A/G
7561   TCCCCCCAGGCCCAATGAGAARCAGTTGGCCAAGGTGATCCAGGTGGCAGAGGCAGCATC   7620

7621   AGACCCAGTCTCCTGTCAGGCACCACCTTGGGTGCCGGTCCCCAGATGCCCTGGCGGGGA   7680

7681   GTGTGCATGCTCCCGGAGCCCCCAGGTCACCCCATGTGAGCCAGGCCCACAGAGCTTGGC   7740

7741   TCTGCAATGCCTGCTGGGCTGCTGCCCATGCTCCACCCCTTCTGGGAAGCTAAAAGACAG   7800

                                      
INS-64C/G        INS-66C/T
  
INS-63C/T                              INS-65C/T      INS-67A/G
7801   CCYTTCAGTGTCCAGAGACCTGCCTGGCCTTGGAGCCTSGGYTTCACATGCCCACYRGGC   7860

                              
INS-68A/G                  3R1-NEST
7861   TGGCAGGGGCACTCAGCTGCCTCCAGCCCCRGCGGTCACCCTGGCATTGGGTCCATCTAA   7920

               
3R1
7921   CTGCTCCCCAGTCACAAG


These pages provide supplementary information for the following publications:

Global haplotype diversity in the human insulin gene region. Stead, J.D.H., Hurles, M.E. and Jeffreys, A.J. Genome Res. 13, 2101-11 (2003)

Structural analysis of insulin minisatellite alleles reveals unusually large differences in diversity between Africans and non-Africans. Stead, J.D.H. and Jeffreys, A.J. Am. J. Hum. Genet. 71, 1273-84 (2002)

Influence of allele lineage on the role of the insulin minisatellite in susceptibility to type 1 diabetes. Stead, J.D.H., Buard, J., Todd, J.A. and Jeffreys, A.J. Hum. Mol. Genet., 9, 2929-2935 (2000).

Allele diversity and germline mutation at the insulin minisatellite. Stead, J.D.H. and Jeffreys, A.J. Hum. Mol. Genet., 9, 713-723 (2000).

If you refer to these data, please cite the relevant publication.




[University Home] [Faculty of Medicine and Biological Sciences Home] [Department of Genetics Home] [Staff member home page] [University Index A-Z][University Search][University Help]
Last updated: 8 September, 2005
Celia A. May
The views expressed in this document are those of the document owner, John D.H. Stead.