Genetics Index

Glossary

Chromosome Structure and Terminology

Cytogenetic analyses are almost always based on examination of chromosomes fixed during mitotic metaphase. During that phase of the cell cycle, DNA has been replicated and the chromatin is highly condensed. The two daughter DNAs are encased in chromosomal proteins forming sister chromatids, which are held together at their centromere. The centromere is the structure where the mitotic spindle attaches prior to segregation.

Metaphase chromosomes differ from one another in size and shape, and the absolute length of any one chromosome varies depending on the stage of mitosis in which it was fixed. owever, the relative position of the centromere is constant, which means that that the ratio of the lengths of the two arms is constant for each chromosome. This ratio is an important parameter for chromosome identification, and also, the ratio of lengths of the two arms allows classification of chromosomes into several basic morphologic types:

ach species has a normal diploid number of chromosomes. !ytogenetically normal humans, for example, have "# chromosomes $"" autosomes and two sex chromosomes%. !attle, on the other hand, have #& chromosomes. 'oo( the table !hromosome Numbers in Different )pecies for data on common animals. !entromere position and arm ratios can assist in identifying specific pairs of chromosomes, but inevitably several or many pairs of chromosomes appear identical by

these criteria. The ability to identify specific chromosomes with certainty was revolutionized by discovery that certain dyes would produce reproducible patterns of bands when used to stain chromosomes. Chromosome banding has since become a standard and indispensible tool for cytogenetic analysis., and several banding techni*ues have been developed++

! banding+ chromosomes are stained with a fluorescent dye such as *uinacrine G banding+ produced by staining with ,iemsa after digesting the chromosomes with trypsin C banding+ chromosomes are treated with acid and base, then stained with ,iesma stain

-ach of these techni*ues produces a pattern of dar( and light $or fluorescent versus non. fluorescent% bands along the length of the chromosomes. Importantly, each chromosome displays a uni"ue banding pattern, analagous to a #bar code#, which allows it to be reliably differentiated from other chromosomes of the same si$e and centromeric position. /n the following figure, human chromosome pairs 0, 1 and 2 are seen with and without , banding.

C %T&'( & )'SITI'% Many chromosomes have clear constrictions in their rods. The primary constrictions are called centromeres. The ends are called telomeres. The positions of the centromeres are used to broadly classify chromosomes into three morphological groups+ $)ee 3igures 0 4 1%

acrocentric $constriction near the top%, or telocentric $no obvious constriction and thus thought to be at the end%, and metacentric $constriction in the middle%, or submetacentric $constiction off.center%

Metacentric chromosomes have their centromere near the center of the chromosome. )ubmetacentric chromosomes have slightly off.center centromeres, such that one chromosome arm is longer than the other. Acrocentric chromosomes have the centromere located very near to one end

Variation in chromosomes number Aneuploidy

Changes in chromosome number can occur by the addition of all or part of a chromosome (aneuploidy), the loss of an entire set of chromosomes (monoploidy) or the gain of one or more complete sets of chromosomes (euploidy). Each of these conditions is a variation on the normal diploid number of chromosomes. As you would expect each of these can have drastic effects on phenotypic expression. Aneuploidy - the abnormal condition were one or more chromosomes of a normal set of chromosomes are missing or present in more than their usual number of copies Monoploidy - the loss of an entire set of chromosomes Euploidy - an entire set of chromosomes is duplicated once or several times he different conditions of aneuploidy are! ". Nullisomy - the loss of both pairs of homologous chromosomes# individuals are called nullisomics and their chromosomal composition is $%-$ $. Monosomy - the loss of a single chromosome# individuals are called monosomics and their chromosomal composition is $%-" &. Trisomy - the gain of an extra copy of a chromosome# individuals are called trisomics and their chromosomal composition is $%'" (. Tetrasomic - the gain of an extra pair of homologous chromosomes# individuals are called tetrasomics and their chromosomal composition is $%'$ )n addition to these conditions, more than one pair of homologous chromosomes may be involved. *or example, a double monosomic is missing one chromosome from each of two pair of homologous chromosome (designated 2N1-1), and a double tetrasomic contains an extra pair of two pairs of homologous chromosomes (2N+2+2). )n addition, to variation in whole chromosome numbers, genetic stoc+s have been developed, especially in plants, where parts of chromosomes are retained. ,ne example is telocentrics which are chromosomes that have a terminal centromere. hese structures represent chromosomes that are missing the genetic material beyond that centromere. (-toc+s containing these types of chromosomes are called monotelosomics or monotelos for short.) Another type of structure is the isochromosome which is a chromosome that contains

the same genetic material on both arms. (.enetic stoc+s which contain these chromosomes are called monoisosomics or monoisos for short.)

Chromosome nomenclature
The /nternational )ystem for uman !ytogenetic Nomenclature $/)!N% is fixed by the )tanding !ommittee on uman !ytogenetic Nomenclature $see Mitelman, 0556%. The basic terminology for banded chromosomes was decided at a meeting in 7aris in 0580, and is often referred to as the 7aris nomenclature.