References

Adam, A., Sheba, C., Sanger, R., et al. (1963) Data for X-mapping calculations, Israeli families tested for Xg, g-6-pd and for colour vision. Ann. Hum. Genet. 26: 187-194.

Adam, A., Tippett, P., Gavin, J., et al. (1967) The linkage relation of Xg to g-6-pd in Israelis: the evidence of a second series of families. Ann. Hum. Genet. 30: 211-218. Asamura, H., Sakai, H., Kobayashi, K., et al. (2006) MiniX-STR multiplex system population study in Japan and application to degraded DNA analysis. Int. J. Legal Med. 120: 174-181.

Askov, M., Kutlar, A., Kutlar, F., et al. (1985) Survey on haemoglobin variants, beta thalassaemia, glucose-6-phosphate dehydrogenase deficiency, and haptoglobin types in Turks from western Thrace. J. Med. Genet. 22: 288-290. Augustin, C., Cichy, R., Hering, S., et al. (2006) Forensic evaluation of three closely linked STR markers in a 13 kb region at Xp11.23. Int. Congr. Ser. 1239: 311-314. Banchs, I., Bosch, A., Guimera, J., et al. (1994) New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines. Hum. Mutat. 3: 365-372. Bär, W., Brinkmann, B., Budowle, B., et al. (1997) DNA recommendations. Further report of the DNA Commission of the ISFH regarding the use of short tandem repeat systems. Int. J. Legal Med. 110: 175-176. Barr, M.L. and Bertram, E.G. (1949) A morphological distinction between neurons of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature 163: 676-677. Barr, M.L. and Carr, D.H. (1962) Correlations between sex chromatin and sex chromosomes. Acta Cytol. 6: 34-45. Bein, G., Driller, B., Schurmann, M., et al. (1998) Pseudo-exclusion from paternity due to maternal uniparental disomy 16. Int. J. Legal Med. 111: 328-330. Beutler, E. (1969) Electrophoresis of phosphoglycerate kinase. Biochem. Genet. 3: 189195.

Bojesen, A., Juul, S. and Gravholt, C.H. (2003) Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J. Clin. Endocrinol. Metab. 88: 622626.

Brinkmann, B. (1998) Overview of PCR-based systems in identity testing. Methods Mol. Biol. 98: 105-119.

Bucher, K.D. and Elston, R.C. (1975) Letter: Estimation of nonpaternity for X-linked trait. Am. J. Hum. Genet. 27: 689-690.

Cali, F., Forster, P., Kersting, C., et al. (2002) DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting. Int. J. Legal Med. 116: 133-138.

Chen, S.H., Malcolm, L.A., Yoshida, A., et al. (1971) Phosphoglycerate kinase: an X-linked polymorphism in man. Am. J. Hum. Genet. 23: 87-91.

Clement-Jones, M., Schiller, S., Rao, E., et al. (2000) The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum. Mol. Genet. 9: 695-702.

Davidson, W.M. and Smith, D.R. (1954) A morphological sex difference in the polymorphonuclear neutrophil leucocytes. Br. Med. J. 4878: 6-7.

Davies, K.E., Speer, A., Herrmann, F., et al. (1985) Human X chromosome markers and Duchenne muscular dystrophy. Nucleic Acids Res. 13: 3419-3426.

Davies, S.H., Gavin, J., Goldsmith, K.L., et al. (1963) The linkage relations of hemophilia A and hemophilia B (Christmas Disease) to the Xg blood group system. Am. J. Hum. Genet. 15: 481-492.

de Knijff, P., Kayser, M., Caglia, A., et al. (1997) Chromosome Y microsatellites: population genetic and evolutionary aspects. Int. J. Legal Med. 110: 134-149.

Deloukas, P., Schuler, G.D., Gyapay, G., et al. (1998) A physical map of 30,000 human genes. Science 282: 744-746.

Desmarais, D., Zhong, Y., Chakraborty, R., et al. (1998) Development of a highly polymorphic STR marker for identity testing purposes at the human androgen receptor gene (HUMARA). J. Forensic Sci. 43: 1046-1049.

Duma, A. and Boskovski, K. (1977) [Forensic significance of Barr bodies]. God. Zb. Med. Fak. Skopje. 23: 461- 466.

Edelmann, J., Deichsel, D., Plate, I., et al. (2003) Validation of the X-chromosomal STR DXS6809. Int. J. Legal Med. 117: 241-244.

Edelmann, J., Hering, S., Kuhlisch, E., et al. (2002) Validation of the STR DXS7424 and the linkage situation on the X-chromosome. Forensic Sci. Int. 125: 217-222.

Edelmann, J., Hering, S., Michael, M., et al. (2001) 16 X-chromosome STR loci frequency data from a German population. Forensic Sci. Int. 124: 215-218.

Edelmann, J., Lessig, R., Willenberg, A., et al. (2006) Forensic validation of the X-chromosomal STR-markers GATA165B12, GATA164A09, DXS9908 and DXS7127 in German population. Int. Congr. Ser. 1239: 298-300.

Edelmann, J. and Szibor, R. (2005) Validation of the X-linked STR DXS6801. Forensic Sci. Int. 148: 219-220.

Edelmann, J. and Szibor, R. (1999) Validation of the HumDXS6807 short tandem repeat polymorphism for forensic application. Electrophoresis 20: 2844-2846.

Edelmann, J. and Szibor, R. (2001) DXS101: a highly polymorphic X-linked STR. Int. J. Legal Med. 114: 301-304.

Edelmann, J. and Szibor, R. (2003) The X-linked STRs DXS7130 and DXS6803. Forensic Sci. Int. 136: 73-75.

Edwards, A., Hammond, H.A., Jin, L., et al. (1992) Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 12: 241-253.

Ellis, N.A., Tippett, P., Petty, A., et al. (1994) PBDX is the XG blood group gene. Nat. Genet. 8: 285-290.

Giovannucci, E., Stampfer, M.J., Krithivas, K., et al. (1997) The CAG repeat within the androgen receptor gene and its relationship to prostate cancer. Proc. Natl. Acad. Sci. USA 94: 3320-3323.

Given, B.W. (1976) Sex-chromatin bodies in penile washings as an indicator of recent coitus. J. Forensic Sci. 21: 381-386.

Haldane, J.B.S. (1919) The combination of linkage values and the calculation of distances between the loci for linked factors. J. Genet. 8: 299-309.

Hearne, C.M. and Todd, J.A. (1991) Tetranucleotide repeat polymorphism at the HPRT locus. Nucleic Acids Res. 19: 5450.

Hellmann, A., Rohleder, U., Schmitter, H., et al. (2001) STR typing of human telogen hairs - a new approach. Int. J. Legal Med. 114: 269-273.

Hering, S., Augustin, C., Edelmann, J., et al. (2006) DXS10079, DXS10074 and DXS10075 are STRs located within a 280-kb region of Xq12 and provide stable haplotypes useful for complex kinship cases. Int. J. Legal Med. 120: 337-345.

Hering, S., Brundirs, N., Kuhlisch, E., et al. (2004) DXS10011: studies on structure, allele distribution in three populations and genetic linkage to further q-telomeric chromosome X markers. Int. J. Legal Med. 118: 313-319.

Hering, S., Kuhlisch, E. and Szibor, R. (2001) Development of the X-linked tetrameric microsatellite marker HumDXS6789 for forensic purposes. Forensic Sci. Int. 119: 42-46.

Hering, S. and Szibor, R. (2000) Development of the X-linked tetrameric microsatellite marker DXS9898 for forensic purposes. J. Forensic Sci. 45: 929-931.

Jobling, M.A., Pandya, A. and Tyler-Smith, C. (1997) The Y chromosome in forensic analysis and paternity testing. Int. J. Legal Med. 110: 118-124.

Jorde, L.B., Bamshad, M. and Rogers, A.R. (1998) Using mitochondrial and nuclear DNA markers to reconstruct human evolution. Bioessays 20: 126-136.

Kaessmann, H., Zollner, S., Gustafsson, A.C., et al. (2002) Extensive linkage disequilibrium in small human populations in Eurasia. Am. J. Hum. Genet. 70: 673685.

Karolchik, D., Baertsch, R., Diekhans, M., et al. (2003) The UCSC Genome Browser Database. Nucleic Acids Res. 31: 51-54.

Kayser, M., Caglia, A., Corach, D., et al. (1997a) Evaluation of Y-chromosomal STRs: a multicenter study. Int. J. Legal Med. 110: 125-133, 141-149.

Kayser, M., de Knijff, P., Dieltjes, P., et al. (1997b) Applications of microsatellite-based Y chromosome haplotyping. Electrophoresis 18: 1602-1607.

Kishida, T. and Tamaki, Y. (1997) Japanese population data on X-chromosomal STR locus AR. Nippon Hoigaku Zasshi 51: 376-379.

Kishida, T., Wang, W., Fukuda, M., et al. (1997) Duplex PCR of the Y-27H39 and HPRT loci with reference to Japanese population data on the HPRT locus. Nippon Hoigaku Zasshi 51: 67-69.

Kotliarova, S.E., Toda, T., Takenaka, O., et al. (1999) Novel (CA)n marker DXYS241 on the nonrecombinant part of the human Y chromosome. Hum. Biol. 71: 261275.

Krüger, J., Fuhrmann, W., Lichte, K.H., et al. (1968) [On the utilization of erythrocyte acid phosphatase polymorphism in paternity evaluation]. Dtsch. Z. Gesamte Gerichtl. Med. 64: 127-146.

La Spada, A.R., Wilson, E.M., Lubahn, D.B., et al. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352: 77-79.

Lalloz, M.R., McVey, J.H., Pattinson, J.K., et al. (1991) Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. Lancet 338: 207-211.

Lalloz, M.R., Schwaab, R., McVey, J.H., et al. (1994) Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene. Br. J. Haematol 86: 804-809.

Lambropoulos, A.F., Frangoulides, E., Kotsis, A., et al. (1995) Rapid typing of 4 VNTR loci, 3'ApoB, MCT118, St14 and YNZ22 by the polymerase chain reaction of a Greek sample. Cell. Mol. Biol. 41: 699-702.

Lee, H.Y., Park, M.J., Jeong, C.K., et al. (2004) Genetic characteristics and population study of 4 X-chromosomal STRs in Koreans: evidence for a null allele at DXS9898. Int. J. Legal Med. 118: 355-360.

Lee, J., Kotliarova, S.E., Ewis, A.A., et al. (2001) Y chromosome compound haplotypes with the microsatellite markers DXYS265, DXYS266, and DXYS241. J. Hum. Genet. 46: 80-84.

Lewis, F.J., Froland, A., Sanger, R., et al. (1964) Source of the X chromosomes in two XXXXY males. Lancet 14: 589.

Lyon, M.F. (1961) Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190: 372-373.

Mahtani, M.M. and Willard, H.F. (1993) A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci. Hum. Mol. Genet. 2: 431-437.

Mann, J.D., Cahan, A., Gelb, A.G., et al. (1962) A sex-linked blood group. Lancet 1: 8-10.

McNeil, J.A., Smith, K.P., Hall, L.L., et al. (2006) Word frequency analysis reveals enrichment of dinucleotide repeats on the human X chromosome and [GATA]n in the X escape region. Genome Res. 16: 477- 484.

Meissner, C., Bruse, P., Mueller, E., et al. (2006) A new sensitive short pentaplex (ShoP) PCR for typing of degraded DNA. Forensic Sci. Int. [Epub ahead of print] doi:10.1016/j.forsciint.2006.04.014.

Mudd, J.L. (1984) The determination of sex from forcibly removed hairs. J. Forensic Sci. 29: 1072-1080.

Nagaraja, R., MacMillan, S., Jones, C., et al. (1998) Integrated YAC/STS physical and genetic map of 22.5 Mb of human Xq24-q26 at 56-kb inter-STS resolution. Genomics 52: 247-266.

Nei, M. and Roychoudhury, A.K. (1974) Sampling variances of heterozygosity and genetic distance. Genetics 76: 379-390.

Oberle, I., Camerino, G., Heilig, R., et al. (1985) Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe. N. Engl. J. Med. 312: 682686.

Ott, J. (1991) Analysis of Human Genetic Linkage. Johns Hopkins University Press, Baltimore.

Poetsch, M., Petersmann, H., Repenning, A., et al. (2005a) Development of two penta-plex systems with X-chromosomal STR loci and their allele frequencies in a northeast German population. Forensic Sci. Int. 155: 71-76.

Poetsch, M., Repenning, A., Lignitz, E., et al. (2005b) DXS6797 contains two STRs which can be easily haplotyped in both sexes. Int. J. Legal Med. 120: 61-66.

Reich, D.E., Cargill, M., Bolk, S., et al. (2001) Linkage disequilibrium in the human genome. Nature 411: 199-204.

Roewer, L., Krawczak, M., Willuweit, S., et al. (2001) Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci. Int. 118: 106-113.

Ross, M.T., Grafham, D.V. and Coffey, A.J. (2005) The DNA sequence of the human X chromosome. Nature 434: 325-337.

Roychoudhury, A.K. and Nei, M. (1988) Human Polymorphic Genes: World Distribution, Oxford University Press, New York.

Sanger, R., Tippett, P. and Gavin, J. (1971) Xg groups and sex abnormalities in people of northern European ancestry. J. Med. Genet. 8: 417-426.

Sanger, R., Tippett, P., Gavin, J., et al. (1977) Xg groups and sex chromosome abnormalities in people of northern European ancestry: an addendum. J. Med. Genet. 14: 210-211.

Schmidtke, J., Kuhnau, W., Wand, D., et al. (2004) Prenatal exclusion without involving the putative fathers of an incestuous father-daughter parenthood. Prenat. Diagn. 24: 662-664.

Shin, K.J., Kwon, B.K., Lee, S.S., et al. (2004) Five highly informative X-chromosomal STRs in Koreans. Int. J. Legal Med. 118: 37-40.

Shin, S.H., Yu, J.S., Park, S.W., et al. (2005) Genetic analysis of 18 X-linked short tandem repeat markers in Korean population. Forensic Sci. Int. 147: 35-41.

Sleddens, H.F., Oostra, B.A., Brinkmann, A.O., et al. (1992) Trinucleotide repeat polymorphism in the androgen receptor gene (AR). Nucleic Acids Res. 20: 1427.

Subramanian, S., Mishra, R.K. and Singh, L. (2003) Genome-wide analysis of microsatellite repeats in humans: their abundance and density in specific genomic regions. Genome Biol. 4: R13.

Szibor, R., Edelmann, J., Zarrabeitia, M.T., et al. (2003) Sequence structure and population data of the X-linked markers DXS7423 and DXS8377 - clarification of conflicting statements published by two working groups. Forensic Sci. Int. 134: 72-73.

Szibor, R., Hering, S. and Edelmann, J. (2005a) 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. Int. J. Legal Med. 119: 179-180.

Szibor, R., Hering, S., Kuhlisch, E., et al. (2005b) Haplotyping of STR cluster DXS6801-DXS6809-DXS6789 on Xq21 provides a powerful tool for kinship testing. Int. J. Legal Med. 119: 363-369.

Szibor, R., Lautsch, S., Plate, I., et al. (2000) Population data on the X chromosome short tandem repeat locus HumHPRTB in two regions of Germany. J. Forensic Sci. 45: 231-233.

Tabbada, K.A., De Ungria, M.C., Faustino, L.P., et al. (2005) Development of a penta-plex X-chromosomal short tandem repeat typing system and population genetic studies. Forensic Sci. Int. 154: 173-180.

Tippett, P. and Ellis, N.A. (1998) The Xg blood group system: a review. Transfus. Med. Rev. 12: 233-257.

Tröger, H.D., Liebhardt, E. and Eisenmenger, W. (1976) [Who smoked the cigarette? Determination of the male nuclear sex in mouth mucosa cells]. Beitr. Gerichtl. Med. 34: 207-209.

Tut, T.G., Ghadessy, F.J., Trifiro, M.A., et al. (1997) Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility. J. Clin. Endocrinol. Metab. 82: 3777-3782.

Urquhart, A., Kimpton, C.P., Downes, T.J., et al. (1994) Variation in short tandem repeat sequences - a survey of twelve microsatellite loci for use as forensic identification markers. Int. J. Legal Med. 107: 13-20.

Watanabe, G., Umetsu, K., Yuasa, I., et al. (2000) DXS10011: a hypervariable tetranu-cleotide STR polymorphism on the X chromosome. Int. J. Legal Med. 113: 249250.

Wegener, R., Wkirich, V., Dauber, E.M., et al. (2006) Mother-child exclusion due to paternal uniparental disomy 6. Int. J. Legal Med. 120: 282-285.

Went, L.N., De Groot, W.P., Sanger, R., et al. (1969) X-linked ichthyosis: linkage relationship with the Xg blood groups and other studies in a large Dutch kindred. Ann. Hum. Genet. 32: 333-345.

Wieacker, P.F., Knoke, I. and Jakubiczka, S. (1998) Clinical and molecular aspects of androgen receptor defects. Exp. Clin. Endocrinol. Diabetes 106: 446-453.

Wiegand, P. and Kleiber, M. (2001) Less is more - length reduction of STR amplicons using redesigned primers. Int. J. Legal Med. 114: 285-287.

Xiao, F.X., Gilissen, A., Cassiman, J.J., et al. (1998) Quadruplex fluorescent STR typing system (HUMVWA, HUMTH01, D21S11 and HPRT) with sequence-defined allelic ladders identification of a new allele at D21S11. Forensic Sci. Int. 94: 39-46.

Yoshida, A., Giblett, E.R. and Malcolm, L.A. (1973) Heterogeneous distribution of glucose-6-phosphate dehydrogenase variants with enzyme deficiency in the Markham Valley Area of New Guinea. Ann. Hum. Genet. 37: 145-150.

Yun, W.M. and Yun, S.G. (1996) Analysis of the VNTR locus DXS52 by the Amp-FLP technique. J. Forensic Sci. 41: 859-861.

Zarrabeitia, M.T., Alonso, A., Martin, J., et al. (2006) Study of six X-linked tetranu-cleotide microsatellites: population data from five Spanish regions. Int. J. Legal Med. 120: 147-150.

Was this article helpful?

0 0

Post a comment