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

Polymorphism Information

NameALFRED UIDLocus NameLocus Symbol
IVS17b (TA)SI000237MCystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)CFTR
Synonyms:
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: GenBank sequence Record  UniSTS Marker Information Record  
References: See References
Polymorphism Description:  IVS17b(TA) is an STRP -- a highly polymorphic (TA)n dinucleotide repeat located in intron 17b of the gene.
Alleles:
Allele NameAllele SymbolDescription
1515Repeat number of (TA)n, n=15
1717Repeat number of (TA)n, n=17
1818Repeat number of (TA)n, n=18
1919Repeat number of (TA)n, n=19
2020Repeat number of (TA)n, n=20
2121Repeat number of (TA)n, n=21
2222Repeat number of (TA)n, n=22
2323Repeat number of (TA)n, n=23
2424Repeat number of (TA)n, n=24
2525Repeat number of (TA)n, n=25
2626Repeat number of (TA)n, n=26
2727Repeat number of (TA)n, n=27
2828Repeat number of (TA)n, n=28
2929Repeat number of (TA)n, n=29
3030Repeat number of (TA)n, n=30
3131Repeat number of (TA)n, n=31
3232Repeat number of (TA)n, n=32
3333Repeat number of (TA)n, n=33
3434Repeat number of (TA)n, n=34
3535Repeat number of (TA)n, n=35
3636Repeat number of (TA)n, n=36
3737Repeat number of (TA)n, n=37
3838Repeat number of (TA)n, n=38
3939Repeat number of (TA)n, n=39
4040Repeat number of (TA)n, n=40
4242Repeat number of (TA)n, n=42
4343Repeat number of (TA)n, n=43
4444Repeat number of (TA)n, n=44
4545Repeat number of (TA)n, n=45
4646Repeat number of (TA)n, n=46
4747Repeat number of (TA)n, n=47
4949Repeat number of (TA)n, n=49
5151Repeat number of (TA)n, n=51
5353Repeat number of (TA)n, n=53
77Repeat number of (TA)n, n=7
88Repeat number of (TA)n, n=8

References:
- Mateu E, Calafell F, Lao O, Bonne-Tamir B, Kidd JR, Pakstis A, Kidd KK, Bertranpetit J. "Worldwide genetic analysis of the CFTR region". Am. J. Hum. Genet. 68:103-117. (2001)
Online citation.

- Zielenski J, Markiewicz D, Rininsland F, Rommens J, Tsui LC. "A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene". Am. J. Hum. Genet. 49:1256-62. (1991) Online citation.


Typing Protocol

IVS8CA was analyzed in a multiplex reaction with IVS17bTA using the primers described by Morral and Estivill (1992, Genomics 13: 1362-1364). PCR amplification was performed using 50 ng of genomic DNA in a final 10-ul volume. The CA repeats were amplified with flanking primers I9D3 and I9R4. I9D3 was fluorescently labeled. Amplification conditions for 30 cycles included: denaturing at 95 degrees for 30 seconds, annealing at 50 degrees for 30 seconds, and extension at 65 degrees for 45 seconds. PCR products were pooled with a size standard (ABI GS500 ROX) and a bromophenol blue- and formamide-based loading buffer, and were loaded on a standard 6% denaturing sequencing gel. Electrophoresis followed on an ABI 377TM sequencer. GeneScan 672TM was used to collect the data, track lanes, and measure fragment sizes. The number of CA repeats was estimated by sequencing two CA-homozygous individuals with different fragment sizes. The sequencing reaction was done with flanking primers I9R4 and AT17R1.2 and the DNA Sequencing Kit TM (PE Biosystems) according to the manufacturer?s specifications.

© 2014 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