Frequency of a allele q

(a) Theoretical Table 19.1

STR Locus

Number of Reported Alleles

Number of Possible Genotypes

(a) Number of theoretically possible genotypes for the

n

n (n+1)/2

13 CODIS STR loci based

on reported alleles listed in

CSF1PO

20

210

Appendix I. The combina-

FGA

80

3240

tion of all possible genotypes is 2.5 x 1033.

TH01

20

210

(b) Observed number of

TPOX

15

120

alleles and genotypes for the same loci in a U.S.

VWA

29

435

population study

D3S1358

25

325

(Butler et al. 2003). Allele frequencies from this study

D5S818

15

120

are found in Appendix II.

D7S820

30

465

D8S1179

15

120

D13S317

17

153

D16S539

19

190

D18S51

51

1326

D21S11

2.51 x 1033

STR Locus Number of Genotypes Number of Alleles Number of Samples

Examined

CSF1PO

31

8

728

FGA

79

23

731

TH01

21

8

733

TPOX

28

9

732

VWA

34

11

732

D3S1358

24

10

733

D5S818

33

9

731

D7S820

30

12

731

D8S1179

44

11

732

D13S317

29

8

733

D16S539

27

8

732

D18S51

84

21

728

D21S11

79

23

732

728 individuals there were only eight CSF1PO alleles observed with 31 different genotypes. Based on the total number of alleles seen across all 13 STR loci, there are over 2.5 decillion (x 1033) possible genotypes (Table 19.1). However, the vast majority of these genotypes will never be observed. The use of STR alleles and genotypes to form DNA population databases and predict STR profile frequencies will be covered in the next two chapters.

REFERENCES AND ADDITIONAL READING

Ayyub, B.M. and McCuen, R.H. (2003) Probability, Statistics, and Reliability for Engineers and Scientists, 2nd Edition. Washington, DC: Chapman & Hall/CRC.

Barbujani, G., Magagni, A., Minch, E. and Cavalli-Sforza, L.L. (1997) Proceedings of the National Academy of Sciences U.S.A., 94, 4516-4519.

Brenner, C.H. (2003) Forensic genetics: mathematics. In Cooper, D.N. (ed) Nature Encyclopedia of the Human Genome, Volume 2, pp. 513-519. New York: Macmillan Publishers Ltd, Nature Publishing Group.

Cavilli-Sforza, L.L. and Bodmer, W.F. (1971) The Genetics of Human Populations. Mineola, NY: Dover Publications.

Chakraborty, R. (1992) Human Biology, 64, 141-159.

Crow, J.F. and Kimura, M. (1970) An Introduction to Population Genetics Theory. New York: Harper and Row.

DNA Advisory Board (2000) Statistical and population genetic issues affecting the evaluation of the frequency of occurrence of DNA profiles calculated from pertinent population database(s) (approved 23 February 2000). Forensic Science Communications, July 2000. Available at: http://www.fbi.gov/programs/lab/fsc/backissu/july2000/ dnastat.htm; see also Appendix V.

Evett, I.W., Werrett, D.J., Pinchin, R. and Gill, P. (1989) Proceedings of the International Symposium on Human Identification, pp. 77-101. Madison, WI: Promega Corporation.

Evett, I.W. and Weir, B.S. (1998) Interpreting DNA Evidence: Statistical Genetics for Forensic Scientists. Sunderland, MA: Sinauer Associates.

Gonick, L. and Wheelis, M. (1983) The Cartoon Guide to Genetics, Updated Edition. New York: HarperCollins Publishers.

Graham, A. (2003) Teach Yourself Statistics. Blacklick, Ohio: McGraw-Hill.

Hardy, G.H. (1908) Mendelian proportions in a mixed population. Science, 17, 49-50.

HartI, D.L. and Clark, A.G. (1997) Principles of Population Genetics, Third Edition. Sunderland, Massachusetts: Sinauer Associates.

HartI, D.L. and Jones, E.W. (1998) Genetics: Principles and Analysis, Fourth Edition. Sudbury, Massachusetts: Jones and Bartlett Publishers.

National Research Council Committee on DNA Forensic Science (1996) The Evaluation of Forensic DNA Evidence. National Academy Press: Washington, DC; usually referred to as NRCII; recommendations listed in Appendix VI.

Planz, J. (2003) Introduction to Forensic Statistics: Probability and Statistics. Workshop presented at the 14th International Symposium on Human Identification. Presentation available at: http://www.promega.com/geneticidproc/ussymp14proc/stats_workshop.htm.

Rumsey, D. (2003) Statistics for Dummies. Indianapolis, Indiana: Wiley Publishing, Inc.

Weir, B.S. (1996) Genetic Data Analysis II: Methods for Discrete Population Genetic Data. Sunderland, Massachusetts: Sinauer Associates.

Weir, B.S. (2003) Forensics. In Balding, D. J., Bishop, M. and Cannings, C. (eds) Handbook of Statistical Genetics, 2nd Edition. Hoboken, New Jersey: John Wiley & Sons, pp. 830-852.

Weir, B.S. (2003) DNA evidence: inferring identity. In Cooper, D. N. (ed) Nature

Encyclopedia of the Human Genome, Volume 2, pp. 85-88. New York City: Macmillan Publishers Ltd, Nature Publishing Group.

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