Testing for parentage and kinship

Current Opinion in Hematology

Volumn 11, Issue 5, 2004, Pages 357-361

  Wenk, Robert E ^a,b,c,d  

^a PENNSYLVANIA STATE UNIVERSITY   (United States)

^b UNIVERSITY OF MARYLAND   (United States)

^c BRT Laboratories   (United States)

^d Baltimore Rh Typing Laboratory   (United States)

Author keywords

Forensics; Immigration; Kinship; Parentage; Paternity; Short tandem repeat sequences

Indexed keywords

ALLELE; DNA ISOLATION; FORENSIC MEDICINE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IMMIGRATION; PARENTAGE ANALYSIS; PARENTHOOD; PATERNITY; PRIORITY JOURNAL; REVIEW; SEX CHROMOSOME; SHORT TANDEM REPEAT; X CHROMOSOME; Y CHROMOSOME;

DNA FINGERPRINTING; FAMILY; FORENSIC MEDICINE; HUMANS; PATERNITY; TANDEM REPEAT SEQUENCES;

EID: 13544268647     PISSN: 10656251     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.moh.0000137914.80855.8a     Document Type: Review

References (26)

1. Wenk RE: Molecular evidence of Munchausen syndrome by proxy. Arch Pathol Lab Med 2003, 127:e36-e37.
2. Annual Report Summary for Testing in 2002. Prepared by the Parentage Testing Program Unit. Am Assoc Blood Banks. November 2003, 1-51. The 2003 annual survey emphasizes STR mutation and null allele frequencies and how to report them in casework.
3. Reid TM, Wolf CA, Kraemer CM, et al.: Specificity of sibship determination using the ABI Identifiler multiplex system. J Forens Sci, in press. A 15-locus STR multiplex appears sufficiently informative to distinguish between siblings and pairs of unrelated people. The "identity by state" method of Presciuttini to determine sibships by using locus heterozygosity is validated.
4. Morris JW, Garber RA, D'Autremont J, et al.: The avuncular index and the incest index. Adv Forens Haemogenet 1988, 2:607-611.
5. DeUngria MC, Frani AM, Magno MM, et al.: Evaluating DNA tests of motherless cases using a Philippine genetic database. Transfusion 2002, 42:954-957.
6. Fung WK, Chung Y, Wong D: Power of exclusion revisited: probability of excluding relatives of the true father from paternity. Int J Legal Med 2002, 116:64-67.
7. Fung WK, Wong DM, Chung YK: How well do STR loci perform in excluding paternity in relatives of the biologic father among immigration cases? Transfusion 2003, 43:982. The probability of paternity exclusion of a relative of the biologic father (PER) is markedly decreased in cases of motherless immigrants and requires 20 STR loci to achieve convincing values (>98%). In the presence of a mutation, examination of even more loci is necessary. Mathematic proofs of formulas are provided by the authors in [6].
8. Fung WK, Carracedo A, Hu Y-Q: Testing for kinship in a subdivided population. Forens Sci Int 2003, 135:105-109. In a subpopulation that may not be in Hardy-Weinberg equilibrium, formulas are derived for determining the paternity index when the inbreeding coefficient (θ) is elevated. In persons with mothers, the change in paternity index is limited, but in motherless persons, θ reduces the paternity index. When the hypothesis of true parentage (paternity) is compared with the hypothesis of a child's unexcluded nonparental relative impersonating a parent, an increase in θ greatly reduces the odds of paternity.
9. Buckleton J: Subpopulations, drift and inbreeding. In: First International Conference on Forensic Human Identification in the Millenium. STR DNA Workshop. London, UK: The Forensic Science Service, 1999.
10. Birus I, Marcikic M, Laue D, et al.: How high should paternity index be for reliable identification of war victims by DNA typing? Croat Med J 2003, 44:322-326. Of skeletal remains in wartime Croatia, an unexpected frequency of matches of victim alleles (at 14-15 loci) with those of unrelated persons was attributed to local inbreeding. The problem may be overcome by study of multiple relatives per case and by using nongenetic, forensic information.
11. th edition. Bethesda: American Association of Blood Banks: 2004. The American Association of Blood Banks provides a guide to interpret each edition of its Standards for Parentage Testing Laboratories. It suggests a method for conservatively incorporating mutation rates into probability calculations.
12. Whittle MR, Romano NL, Negreiros VA: Updated Brazilian genetic data, together with mutation rates on STR loci, including D10S1237. Forensic Sci Int 2004, 139:207-210.
13. Edelmann J, Deichsel D, Plate I, et al.: Validation of the X chromosome STR DXS6809. Int J Legal Med 2003, 117:241-244.
14. Edwards M, Allen RW: Characteristics of mutations at the D5S818 locus studied with a tightly linked marker. Transfusion 2004, 44:83-90. A marker (endonuclease restriction site) was found to be linked to the D5S818 STR locus. Examination of mutated alleles showed that slippage mutations (changes in repeat number) frequencies are related to specific alleles as well as to allele length, gender, and locus.
15. Wenk RE, Chiafari FA, Gorlin J, et al.: Better tools are needed for parentage and kinship studies. Transfusion 2003, 43:979-981. More informative loci are desirable for use in two-person immigration cases because tetrameric STRs show a high rate of chance allele sharing.
16. Gorman K, Slinker Z, Johnson S, et al.: The penta BEC multiplex primers from Promega: additional loci available for identity testing. Profiles in DNA 2004; 7:9-11 (www.promega.com). Approximately 4% of parentage cases with mutations, with only one parent or involving genotype reconstruction, are not resolved with current 16-locus STR multiplexes. A three-locus pentameric set appears to resolve approximately 85% of them.
17. Naito E, Dewa K, Fukuda M, et al.: Novel paternity testing by distinguishing parental alleles at a VNTR locus in the differentially methylated region upstream of the human H19 gene. J Forensic Sci 2003, 48:1-5. Paternal CpG dinucleotides are methylated (inactivated) in the region of a VNTR during genomic imprinting (expression of the maternal DNA). A methylation-sensitive restriction enzyme selectively cuts the paternal DNA to produce an amplifiable fragment. The maternal DNA is digested, preventing its amplification.
18. Gabriel MN, Calloway CD, Reynolds RL, et al.: Identification of human remains by immobilized sequence-specific oligonucleotide probe analysis of mtDNA hypervariable regions I and II. Croat Med J 2003, 44:293-298.
19. Johnson CL, Warren JH, Giles RC, et al.: Validation and uses of a Y-chromosome STR 10-plex for forensic and paternity laboratories. J Forensic Sci 2003, 48:1-2. Y-chromosomal STRs are inherited as single haplotypes that are very polymorphic. Haplotypes are useful in excluding men from paternity in cases involving male offspring or when the alleged father is unavailable but his patrilineal relatives can be tested.
20. Coble MD, Butler JM, et al.: Characterization of new miniSTR loci to aid analysis of degraded DNA. J Forens Sci 2004, in press. DNA recovered from trace evidence or poorly preserved tissue may be minimal or degraded. The usual STR locus DNA (100-450 bp in size) may not amplify at all or may show allele dropout. Small amplicons (125 bp) have been developed by selecting informative STRs both unlinked to those in common use and with flanking regions that allow PCR primers to hybridize close to the repeat sequences. The supplemental markers should be valuable in forensic parentage and kinship studies.
21. Wenk RE: Problems of prenatal parentage analyses. Transfusion 2004, 44:134-135. The rare causes of false evidence of nonparentage in prenatal cases are summarized. Ambiguous (usually avoidable) results are caused by two common problems: contamination of fetal specimens with maternal cells and failure to recognize when a collected specimen is not fetal.
22. Banaschak S, Michael M: Detection of fetal DNA in a cell pellet after centrifugation of mountant. J Forensic Sci 2003, 48:1-2.
23. Houtz T, Chiafari F, Wenk RE, et al.: Controlling specimen misidentification in parentage analysis. Transfusion 2004, 44:1258-1259. Specimens of a mother and child are reverse labeled with a frequency of ∼1/1,000 because the two people are sampled together for parentage testing. The false exclusions of paternity that result may be detected by switching the mother and child results.
24. th edition of the Standards provides good laboratory practices for parentage laboratories in the United States. New good laboratory practices include process controls, competency testing, and retesting the original samples in all cases of parentage exclusion.
25. Gollust SE, Wilfond BS, Hull SC: Direct-to-consumer sales of genetic services on the internet. Genet Med 2003, 5:332-337. Parentage tests were provided by 83% of internet sites offering direct genetic services, whereas only 13% offered health-related services. The international nature of internet services is unregulated by government. Some unusual reasons for parentage and kinship studies were to gain tribal rights for Native Americans, identification of missing persons, genealogic determinations, and determination of pedigree by adoptees.
26. Guthrie D: DNA testing upsets parentage laws: modern science is wreaking havoc on an age-old paternity rule. The Grand Rapids Press, Feb 29, 2004, pg. A1.