W. R. Mayr

DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing

Sequence analysis of human mitochondrial DNA (mtDNA) is being used widely to characterize forensic biological specimens, particularly when there is insufficient nuclear DNA in samples for typing. Hair shafts, bones, teeth and other samples that are severely decomposed may be subjected to mtDNA analysis, e.g. [1–5]. Although many of the quality assurance, quality control and interpretational guidelines used for PCR-based nuclear DNA analyses apply to mtDNA analysis, there are some features of mtDNA that warrant specific consideration: (1) mtDNA is maternally inherited; (2) heteroplasmy; and (3) the greater sensitivity of detection of mtDNA typing. It is imperative that guidelines consider the features of mtDNA and that practices do not exceed the state-of-knowledge on mtDNA. In a effort to refine previously published guidelines [6] and to assist those currently using mtDNA protocols and those considering implementing mtDNA analysis, the DNA Commission of the ISFG met on 16th August 1999 in San Francisco to develop current guidelines. The following are the recommendations by the DNA Commission on the use of mtDNA analysis.

DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y- chromosome STRs

During the past few years the DNA commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relatively new area, namely Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods.

Nomenclature for Factors of the HLA System, 1994

1. Several clones should have been sequenced. 2. Sequencing should have been performed in both directions. 3. An accession number in a databank should have been obtained. 4. Full length sequences are preferable though not essential. 5. Where possible a paper should have been submitted for publication. 6. DNA or other material, in particular cell lines, should be made available in a publicly accessible repository or at least in the originating laboratory. Documentation on this will be maintained by the Nomenclature Committee.

Nomenclature for factors of the HLA system, 2002

This chapter provides the nomenclature for factors of the HLA system, 2002. A number of previously described class I and II gene fragments within the HLA region are named in this system. Official designations are given to these gene fragments. The names LMP2 and LMP7 used previously for the two proteasome genes in the HLA class II region have been renamed by the Human Genome Nomenclature committee (HGNC) as PSMB9 and PSMB8, respectively. This system introduces the additional digit for synonymous variation and all allele names that are currently five digits or above are renamed accordingly. The use of an optional “N’” or “L” suffix to an allele name to indicate either “Null” or “Low” expression was introduced in previous Nomenclature Reports. Three new suffixes are introduced in this system. An “S” to denote an allele specifying a protein that is expressed as a soluble “Secreted” molecule but is not present on the cell surface; a “C” to indicate an allele product that is present in the “Cytoplasm” but not at the cell surface; an “A” to indicate “Aberrant” expression where there is some doubt as to whether a protein is expressed or not. There is evidence of differential splicing of HLA-G that leads to the production of both membrane-bound and soluble forms of the same allele. The IMGT/HLA Sequence Database contains sequences for all HLA alleles officially recognized by the WHO Nomenclature Committee for Factors of the HLA System and, provides users with online tools and facilities for their retrieval and analysis.

DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing.

Sequence analysis of human mitochondrial DNA (mtDNA) is being used widely to characterize forensic biological specimens, particularly when there is insufficient nuclear DNA in samples for typing. Hair shafts, bones, teeth and other samples that are severely decomposed may be subjected to mtDNA analysis, e.g. [1–5]. Although many of the quality assurance, quality control and interpretational guidelines used for PCR-based nuclear DNA analyses apply to mtDNA analysis, there are some features of mtDNA that warrant specific consideration: (1) mtDNA is maternally inherited; (2) heteroplasmy; and (3) the greater sensitivity of detection of mtDNA typing. It is imperative that guidelines consider the features of mtDNA and that practices do not exceed the state-of-knowledge on mtDNA. In a effort to refine previously published guidelines [6] and to assist those currently using mtDNA protocols and those considering implementing mtDNA analysis, the DNA Commission of the ISFG met on 16th August 1999 in San Francisco to develop current guidelines. The following are the recommendations by the DNA Commission on the use of mtDNA analysis.

DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis

The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. A previous recommendation published in 2001 has already addressed Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). Since then, the use of Y-STRs has become very popular, and numerous new loci have been introduced. The current recommendations address important aspects to clarify problems regarding the nomenclature, the definition of loci and alleles, population genetics and reporting methods.

Nomenclature for factors of the HLA system, 2002.

This chapter provides the nomenclature for factors of the HLA system, 2002. A number of previously described class I and II gene fragments within the HLA region are named in this system. Official designations are given to these gene fragments. The names LMP2 and LMP7 used previously for the two proteasome genes in the HLA class II region have been renamed by the Human Genome Nomenclature committee (HGNC) as PSMB9 and PSMB8, respectively. This system introduces the additional digit for synonymous variation and all allele names that are currently five digits or above are renamed accordingly. The use of an optional “N’” or “L” suffix to an allele name to indicate either “Null” or “Low” expression was introduced in previous Nomenclature Reports. Three new suffixes are introduced in this system. An “S” to denote an allele specifying a protein that is expressed as a soluble “Secreted” molecule but is not present on the cell surface; a “C” to indicate an allele product that is present in the “Cytoplasm” but not at the cell surface; an “A” to indicate “Aberrant” expression where there is some doubt as to whether a protein is expressed or not. There is evidence of differential splicing of HLA-G that leads to the production of both membrane-bound and soluble forms of the same allele. The IMGT/HLA Sequence Database contains sequences for all HLA alleles officially recognized by the WHO Nomenclature Committee for Factors of the HLA System and, provides users with online tools and facilities for their retrieval and analysis.

Maternal alloimmunization against fetal platelet antigens: a prospective study.

Summary. Neonatal alloimmune thrombocytopenia (NAIT) is induced by maternal alloantibodies to fetal platelet antigens. This prospective study was carried out to evaluate the incidence of anti‐platelet antibodies in 933 mother‐child pairs where the mother and child were typed for the human platelet antigens (HPA)‐l, ‐2,‐3,‐5. Sera from mismatched mother‐child pairs were screened for anti‐platelet antibodies, anti‐HLA class I and blood group ABO IgG antibodies. Platelet‐specific antibodies were anti‐HPA‐3a in one and anti‐HP A‐5b in 17 neonates, respectively. All these neonates had normal platelet counts. One woman had autoreactive antibodies. Anti‐HLA class I and anti‐blood group A IgG antibodies were detected in five and four neonates, respectively, born with a platelet count <150×109/l. None of the 11 homozygous HP A‐lb mothers became immunized against their heterozygous offspring. The maternal HLA‐allotypes HLA‐DR52 and ‐DR6, typically found in individuals immunized against HPA‐la and ‐5b, respectively, were found in three of 11 HPA‐b/b non‐responders and eight of the anti‐HPA‐5b responders. The results indicate that a risk for NAIT due to HPA‐2 and ‐3 alloimmunization is low. The HLA allotypes do not predict the risk for NAIT due to HPA‐1 or ‐5 alloimmunization. Maternal anti‐HPA‐5b antibodies do not correlate with the platelet count in the neonate.

Paternity Testing Commission of the International Society of Forensic Genetics: recommendations on genetic investigations in paternity cases.

The International Society for Forensic Genetics (ISFG) has established a Paternity Testing Commission (PTC) with the purpose of formulating international recommendations concerning genetic investigations in paternity testing. The PTC recommends that paternity testing be performed in accordance with the ISO 17025 standards. The ISO 17025 standards are general standards for testing laboratories and the PTC offers explanations and recommendations concerning selected areas of special importance to paternity testing.

Severe immune hemolysis after minor ABO‐mismatched allogeneic peripheral blood progenitor cell transplantation occurs more frequently after nonmyeloablative than myeloablative conditioning

BACKGROUND : Hemolysis as a result of donor‐recipient minor ABO mismatching is a complication of allogeneic peripheral blood progenitor cell (PBPC) transplantation (PBPCT). The increased B‐lymphocyte content of PBPC grafts and immunosuppressive regimens without methotrexate (MTX) may increase incidence and severity of this event.