By John D Firth; Royal College of Physicians of London. Education Department

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Their very density indicates that, in the human genome, there will be over 106 useful SNPs. 0 indicates odds in favour of linkage of 1,000 to 1. 0 does not imply P = 1 × 10−3; a P value can be determined for a LOD score using Bayesian analysis. Gene identification In the field of forensic science, hypervariable minisatellites have been used as a means of ‘DNA fingerprinting’. These minisatellites contain a variable number of tandem repeats – GGGCAGGANG. The fingerprint is read by Southern blotting of DNA and interrogating the blot with a probe comprising a run of tandem repeats.

Some of the methods used in the construction of this molecular map are illustrated in Fig. 20. The anchoring of a framework of markers was an essential first step and was How do you know whether two sites on the DNA are linked? Now that the genome has been sequenced, this should become clear from reference to the human genome database, but previously this was not possible, and statistical methods were derived for determining whether two things (perhaps a putative gene for a disease trait and a known genetic locus, or two known genetic loci) were likely to be linked with each other.

In contrast, a woman with a mitochondrial mutation will pass it on to all of her offspring. 31 SBT_C05_GAM 12/8/10 15:20 Page 32 GENETICS AND MOLECULAR MEDICINE: SELF-ASSESSMENT 32 Answer to Question 9 Answer to Question 10 E C Adenine (A) and guanine (G) are purines; cytosine (C), thymine (T) and uracil are pyrimidines. Base pairing in DNA always involves one purine and one pyrimidine, ie GC or AT. Coding DNA is frequently divided into segments (exons) that are separated by non-coding intervening regions (introns), whose function is largely unknown.

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