Search

The development of molecular biological tools and their application to the study of human DNA has had a widespread impact on forensic science in terms of greater accuracy of results and increased use of biological materials. Novel techniques in DNA fingerprinting coupled with traditional methods in forensic haemogenetics will in time greatly increase the contribution of forensic science to the legal process. As technologies for the recovery and analysis of the genetic component of biological material are progressively refined, so will the ability of law enforcement agencies to analyse evidence obtained from scenes of violent crime. This review briefly describes some of the traditional methods used in forensic science as well as the novel DNA techniques rapidly superseding them.

X-linked retinitis pigmentosa (XLRP) is manifested in affected males in their first decade and results in blindness by the third or fourth decade. Carrier detection is difficult since most carrier females show no or only equivocal signs well into or beyond their reproductive years. The genes, or the mutations causing RP have not been identified but at least two have been localised to the short arm of the X chromosome provisionally named RP2 and RP3. Identifying inheritance of one or other of these genes must be done by linkage in families using close, informative DNA markers. Here we report the localisation of a highly informative polymerase chain reaction (PCR) detectable microsatellite marker DXS538 using a previously studied family with X-linked RP3 in which recombination had occurred in the region of importance. The DXS538 dinucleotide repeat locus was previously localised to Xp21.1-p11.21 to study RP3 in one XLRP family. Using published RFLP data we narrowed the localisation of DXS538 to the region Xp21.1 - p11.23. Thus DXS538 is now a convenient diagnostic tool, aiding carrier detection of XLRP in females, as shown in the family presented here.

Summary A description is given of the planning, conduct and evaluation of four workshops for health personnel. Components common to all programmes are used to derive a basic model which could be used for educational training. The results indicate that participants found their workshop experience valuable and relevant to education in the health sciences.

INHERITED variation has been recently demonstrated in the transferrin of an Australian marsupial, Macropus rufus (=Megaleia rufa)1. So far no other variation has been shown in the blood of this or other marsupials. The present communication reports the investigation of red cell acid phosphatase in two species of Australian marsupials, M. rufus and M. giganteus, the former commonly known as the red kangaroo and the latter as the grey kangaroo.

VARIOUS β-globulin types have been demonstrated, using starch-gel electrophoresis, in several species of mammals, namely, man1, cattle2, sheep3, goat4 and horse5. The present communication reports the discovery of similar variations in two species of monkey, Macaca mulatta and M. irus. Variations in the monkey β-globulins were initially detected by paper electrophoresis using barbital buffer at pH 8.6. However, the β-globulins were much better resolved when starch-gel was used instead of paper.

THE discovery that the haptoglobin present in human serum can be resolved into a number of different types by electrophoresis in starch gel1 and the subsequent demonstration that these types are controlled genetically2 has opened a new field of investigation in human population genetics. Already the distribution of the haptoglobin phenotypes has been reported for a number of different populations in the world3, and several other investigations privately reported to us are in progress.

IN 1957 Smithies1, using the technique of starch-gel electrophoresis, described inherited variants of human β-globulins. Smithies and Hiller2 established the identity of these β-globulins with the iron-binding protein, trans-ferrin, and this was afterwards confirmed with iron-59 and autoradiography3. During the past few years widespread sampling of human populations has demonstrated the existence so far of 14 transferrins. In order of decreasing mobility in starch-gel electrophoresis these are4: B0, BO–1 B1, B1–2, B2, B3, C, D0, D4 (D0–1), Dmontreal Dchi, D1, D2, D3. The present communication reports another transferrin of the B series.

THE Australian Aborigines are an interesting population for the study of human variability due to inherited characteristics. The first study of their blood groups was published in 1922 (ref. 1) and many extensive surveys have since been undertaken. More recently discovered polymorphic characters, including the serum haptoglobins, transferrins, gamma globulins and group specific types, have also been investigated, and the results have been reviewed2–4. There is, however, no published information about the distribution of red cell acid phosphatase types among the aborigines and the study reported here was undertaken primarily to provide the information.

KURU is a rapidly progressive and fatal neurological disease found to occur with high frequency among the Fore natives in the Eastern Highlands of New Guinea. Their tribal area, of several hundred square miles, is in a remote and rugged part of the highlands which has only recently become accessible to Europeans. Between 20,000 and 30,000 people live in the area affected and, of these, about 1 per cent is afflicted with the disease at any one time. Altogether kuru is responsible for more than half the deaths of Fore females and about 10 per cent of males. Extensive studies have as yet failed to reveal evidence of any environmental or nutritional factor involved in the production of kuru1. The possibility of the Fore people having a genetical predisposition to kuru was first mentioned in 1957 2. Shortly afterwards, when a preliminary genetical study had been made, distinctive family patterns were found3,4, and it was then suggested not only that the disease had an important familial component but also that this was quite possibly based on a single gene locus. The genetical hypothesis, advanced tentatively, was that kuru is under the control of autosomal alleles Ku and ku such that in females the homozygotes KuKu and heterozygotes KuKu are early- and late-onset victims, respectively, while in males the homozygotes KuKuare KuKu victims but the heterozygotes are clinically normal. There are obvious weaknesses in basing inferences on genealogical data obtained from such primitive people through pidgin-English-speaking native interpreters. At the present time, however, this is the only way in which such material can be obtained. Nevertheless, it must be noted that the genealogical data gathered from many different parts of the affected region in extensive field studies during the past two years all exhibit essentially the osame distinctive family patterns5.