By Peter D Turnpenny BSc MB ChB FRCP FRCPCH
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The mRNA. Although there are 64 codons, there are only 30 cy'toplasmictRNAs, the anticodons of a number of the tRNAs recognizing codons that differ at the position of the third base, with guanine being able to pair with uracil as well as cytosine. Termination of translation of the mRNA is signaled by the presenceof one of the three stopor terminationcod,ons. the nucleus),or secretionfrom the cell. Eight of the 22 tRNAs are able to recognizecodons that differ only at the third baseofthe codon, l4 can recognizepairs of codons that are identical at the first two bases,with either a purine or pyrimidine for the third base,the other four codons acting as stop codons (seeTable 2.
5) and that malenessis determined by the presenceof a Y chromosome regardlessof the number of X chromosomes present in each cell. It was also realized that abnormalities of chromosome number and structure could seriously disrupt normal srowth and development. 1 highlights the methodological developmenrs rhar have taken place during the past five decadesthat underpin our current knowledeeof human cvtosenetics. H U M A NC H R O M O S O M E S MORPHOLOGY At the submicroscopiclevel chromosomesconsistof an extremely elaboratecomplex, made up of supercoils of DNA, which has been likened to the tightly coiled network of wiring seen 1n a solenoid (p.
Colchicine is then added at a specifictime interval, when a higher proportion of cellswill be in prometaphaseand the chromosomeswill not be fully contracted,giving a more detailed banding pattern. C (centromeric heterochromatin) banding If the chromosomesare pretreated with acid followed by alkali prior to G banding,the centromeresand other heterochromaticregions containing highly repetitive DNA sequencesare stained preferentially. ANALYSIS KARYOTYPE The next stagein chromosome analysisinvolves first countinB the number of chromosomespresent in a specifiednumber of cells, 33 CHROMOSOM AE NSDC E L LD I V I S I O N pattern of the individual chromosomes is carried out on both members of eachpair of homologsin approximatelythree to five metaphasespreads,which show high-quality banding.