The HumARA genotype is linked to spinal and bulbar muscular dystrophy and some further disease risks and should no longer be used as a DNA marker for forensic purposes

Szibor, R.; Hering, Sandra; Edelmann, Jeanett

doi:10.1007/s00414-005-0525-0

Cited by 15 publications

(14 citation statements)

References 21 publications

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“…In fact, many times these linkage ''findings'' can later be proven false with further studies, such as with TH01 (86,87). To date there has only been a single call to remove an infrequently used STR marker from future consideration in human (88). The X-chromosome STR locus HumARA (11) is a CAG repeat located in a coding region (androgen receptor gene, exon 1) that has been directly linked to several genetic diseases (see (88)).…”

Section: Potential Linkage To Disease Genesmentioning

confidence: 99%

Genetics and Genomics of Core Short Tandem Repeat Loci Used in Human Identity Testing

Butler

2006

Journal of Forensic Sciences

575

350

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Over the past decade, the human identity testing community has settled on a set of core short tandem repeat (STR) loci that are widely used for DNA typing applications. A variety of commercial kits enable robust amplification of these core STR loci. A brief history is presented regarding the selection of core autosomal and Y-chromosomal STR markers. The physical location of each STR locus in the human genome is delineated and allele ranges and variants observed in human populations are summarized as are mutation rates observed from parentage testing. Internet resources for additional information on core STR loci are reviewed. Additional topics are also discussed, including potential linkage of STR loci to genetic disease-causing genes, probabilistic predictions of sample ethnicity, and desirable characteristics for additional STR loci that may be added in the future to the current core loci. These core STR loci, which form the basis for DNA databases worldwide, will continue to play an important role in forensic science for many years to come.

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Section: Potential Linkage To Disease Genesmentioning

confidence: 99%

Genetics and Genomics of Core Short Tandem Repeat Loci Used in Human Identity Testing

Butler

2006

Journal of Forensic Sciences

575

350

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“…The difference is due to the use of new primers in [23], external to those used in this work and by Watanabe et al [14]; however, according to [23], allele frequencies can be compared across population data. In a recent paper [26], the authors, considering that for HUMARA locus CAG repeat length variations are associated with disease risks, strongly recommended the forensic community to refrain from HUMARA typing in forensic applications. We agree with this statement and so we are going to replace this locus with another polymorphic ChrX marker, presenting however our population data of HUMARA locus for scientific purposes.…”

Section: Discussionmentioning

confidence: 96%

Development of a heptaplex PCR system to analyse X-chromosome STR loci from five Italian population samples

Bini

Ceccardi

Ferri

et al. 2005

Forensic Science International

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“…Some countries, such as Germany, have strict regulations in this regard [18], resulting in the call for disqualification of certain markers [21]. As we work through these issues for mtDNA, it is important to accurately weigh the costs and benefits of various approaches and to seek the most effective ways for accessing additional variation under the most applicable circumstances.…”

Section: Discussionmentioning

confidence: 99%

Effective strategies for forensic analysis in the mitochondrial DNA coding region

et al. 2005

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Recently, it has been recognized that accessing information in the mtDNA coding region can provide additional forensic discrimination with respect to the standard typing of the D-loop region, augmenting the sometimes rather limited forensic power of mtDNA testing. Here, we discuss considerations relating to maximally effective approaches for recovering additional discrimination in the coding region, bearing in mind that (1) DNA quality and quantity in typical mtDNA casework usually restrict the amount of additional sequence that can be obtained, and (2) the need for additional discrimination primarily arises when common HV1/HV2 types are encountered. Most investigators have sought additional discrimination by sequencing short segments of coding region that are thought to be particularly variable. Unfortunately, efforts in this regard have generally failed to appreciate that most variation in the coding region is redundant with information already present in HV1/HV2 and have therefore overvalued the potential of this approach for providing additional discrimination. An alternative single nucleotide polymorphism-based approach [Int J Legal Med 118:137-146, 2004] has been to identify specific bases that provide resolution in specific common HV1/HV2 types (and related sequences). We investigate several highly relevant data sets wherein the latter approach performs appreciably better than sequencing selected short portions of the coding region. This is true even when only synonymous variation is targeted to minimize the potential for problems arising from discovery of mutations that have reportedly been related to disease.

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The HumARA genotype is linked to spinal and bulbar muscular dystrophy and some further disease risks and should no longer be used as a DNA marker for forensic purposes

Cited by 15 publications

References 21 publications

Genetics and Genomics of Core Short Tandem Repeat Loci Used in Human Identity Testing

Genetics and Genomics of Core Short Tandem Repeat Loci Used in Human Identity Testing

Development of a heptaplex PCR system to analyse X-chromosome STR loci from five Italian population samples

Effective strategies for forensic analysis in the mitochondrial DNA coding region

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