Genetic Markers in Human Bone: I. Deoxyribonucleic Acid (DNA) Analysis

Abstract

Deoxyribonucleic acid (DNA) was isolated from a number of spongy and compact human bone tissue specimens, and the yield was estimated on a “per milligram of starting tissue” basis. DNA was, in addition, isolated from a number of corresponding blood and bone tissue specimens. Spectrophotofluorometry and ethidium bromide visualization on minigels were used to estimate the quantity and degree of degradation of DNA. The DNA from several blood-bone pairs is shown to give concordant restriction fragment length polymorphism (RFLP) typing results by two different typing protocols with five different singlelocus probes. DNA from several additional blood-bone pairs is shown to give concordant results for human leucocyte antigen (HLA)-DQα phenotypes following polymerase chain reaction (PCR) amplification and hybridization to specific allele-specific oligonucleotide (ASO) probes, and for the variable numbers of tandem repeats (VNTR) length polymorphisms 3′ to the human apolipoprotein B (APOB) gene following PCR amplification with specific primers and analysis of the products by electrophoresis and ethidium bromide visualization.

Obtaining, Storing and Archiving Specimens and Tissue Samples for Use in Molecular Studies

“…Nevertheless, Hagelberg et al [125] amplified DNA from human bone samples 300-5500 years old. More recently, methods developed for protein extraction from ancient bone were found to yield large amounts of DNA with molecular weights much higher than those seen from ancient soft tissue [126][127][128]. Dried, untanned skins routinely yield DNA sequences, as do dried, pinned insects, although the DNA may be extremely degraded [38,64,124].…”

Ancient DNA Studies in Physical Anthropology

“…Our practice has been to chose small fragmentary rib samples because they are numerous per individual, are of minimal morphological or paleopathological import, and are rarely missed from museum or archaeological collections. Additionally, spongy bones such as ribs can yield 10-to 20-fold more DNA than does compact bone (Lee et al 1991), although arguably not as reliably (Parsons & Weedn 1996;cf Parr et al 1996.…”

Matrilineal affinities and prehistoric Siberian mortuary practices: a case study from Neolithic Lake Baikal

“…Specimens for DNA analysis were sampled in a non-probabilistic manner based on the availability of vertebrae. Vertebrae were considered the preferred skeletal element for our aDNA work as cancellous bone is expected to yield higher concentrations of DNA per unit mass of tissue than cortical bone [39]. Furthermore, vertebrae are relatively more disposable than other skeletal elements, and they provide ample amount of bone tissue per element.…”