KARYOTYPE & FISH

PRESENTED BY GROUP D ABEEL TARIQ, ABEERA MUNIR, ARAMISH DAHAR, IQRA IQBAL, JEHANGIR MALIK, JAMAL ALVI, KANZA AKHTAR, MONICA DEVI, SAPNA DEVI, SHANUM JUNEJO, ZAIN UL ABIDEIN.

KARYOTYPE
Ak !"#$"%& is the number andappearanceofchromosomesin thenucleusof aeukaryoticcell. The term is also used for the complete set of chromosomes in species, or an indi idual or!anism.

KARYOTYP"#$
Karyotypin! is a test to e%amine chromosomes in a sample of cells, &hich can help identify !enetic problems as the cause of a disorder or disease. This test can' (ount the number of chromosomes )ook for structural chan!es in chromosomes

The test can be performed on almost any tissue, includin!' Amniotic fluid *lood *one marro& Placenta To test amniotic fluid, anamniocentesisis done. Abone marro& biopsyis needed to take a sample of bone marro&

+TEP+ O, KARYOTYP"#$
-sin! cells intissue culture. Pretreatin! cells in ahypotonic solution, &hich s&ells them and spreads the chromosomes Arrestin!mitosisinmetaphaseby a solution ofcolchicine +.uashin! the preparation on the slide forcin! the chromosomes into a sin!le plane (uttin! up a photomicro!raph and arran!in! the result into an indisputable karyo!ram.

The normal human karyotypes contain // pairs ofautosomalchromosomes and one pair ofse% chromosomes. #ormal karyotypes forfemalescontain t&o0 chromosomesand are denoted 12,003malesha e both an 0 and aY chromosomedenoted 12,0Y . Any ariation from the standard karyotype may

+TA"#"#$
The study of karyotypes is made possible bystainin!. -sually, a suitabledye, such as$iemsa,is applied aftercellsha e been arrested durin!cell di isionby a solution of colchicine. ,or humans,&hite blood cellsare used most fre.uently because they are easily induced to di ide and !ro& intissue culture.

The Process of karyotypin!

4. The study of karyotypes is made possible by preparin! stained slides of metaphase cells and analy5in!, scannin! them under the microscope and then preparin! di!ital ima!es. /. +tainin! allo&s the bandin! pattern of each chromosome to be studied. This helps identify the chromosome, since each chromosome has its o&n characteristic bandin! pattern. A pair of chromosomes &ill ha e the same bandin! pattern. 6. 7ifferent types of bandin! is used to isuali5e different types of chromosomes. (lassic Karyotypin! commonly uses $ bandin!, in &hich a dye called 8!iemsa9 is used to stain the slides.

PREPARAT"O# O, +)"7E+

(hromosomes as they are seen on the slide.

(hromosomes after bein! arran!ed.

TYPE+ O, *A#7"#$

IMPORTANCE OF KARYOTYPING

The study of karyotypes is important forcell biolo!yand!enetics, and the results may be used ine olutionary biolo!y:karyosystematicsand medicine;. Karyotypes can be used for many purposes3 such as to studychromosomal aberrations,cellularfunction,ta% onomicrelationships, and to

+tructural (hromosomal This is &hen the Abnormalities

structure of a chromosome is altered, rather than the number. These include' D&'&$(#)*3 portion of the chromosome is missin! or deleted. D+%'(, $(#)*3 portion is duplicated < e%tra !enetic material. T! )*'#, $(#)*3 portion of one chromosome is

I)-&!*(#)*3 a portion has broken off and in erted itself. I)*&!$(#)3 a portion has been deleted, and reinserted to another re!ion. R().*3 chromosome has broken off and formed a circle or rin!. I*#,/!#0#*#0&3

7"+A7=A#TA$E + O, KARYOTYP"#$

 Results can take lon!er than those of a ,"+> analysis. Prenatal karyotype can cause 7isturbance of the foetus &hich may lead to a spontaneous abortion. "t can only detect lar!e chromosomal abnormalities such as loss or !ain of an entire chromosome or portions of a chromosome and translocations. ?any of the chan!es in our !enetic material that cause disease are ery small and re.uire other methods to be detected.

,)-ORE+(E#T "# +"T>Y*R"7"@AT"O# OR ,"+> A#A)Y+"+

H#1 I* FISH T&*$(). D#)&2

A ,"+> test is done usin! a fluorescent probe that binds to certain specific chromosomes. These fluorescent probes are made of 7#A specific to certain chromosomes and are ta!!ed &ith fluorescent dye. The cells used in ,"+> analysis don9t ha e to be !ro&n or cultured :&hich can take A to 4B days;, so the results of a ,"+> analysis are a ailable much faster than the results of a karyotype.

Typically, a sample is obtained and sent to the laboratory and the chromosomes are isolated on a slide. The probes are then placed on the slide and allo&ed to hybridi5e :or find their match; for about 4/ hours. *ecause the probes are made of 7#A, they &ill

After hybridi5ation :or stickin!;, the slide is e%amined under a special microscope that can see fluorescent ima!es. *y countin! the number of fluorescent si!nals, a cyto!eneticist can determine ho& many of a specific chromosomes are present.

The main ad anta!es to ,"+> analysis is that it can pro ide information about certain chromosomes .uickly. ,or e%ample, in three to four days, it can tell ho& many copies of a number /4 chromosome a particular person may ha e. "n contrast,

$ A!& $/& D(* 4- )$ .&* #5 FI

The main disad anta!e of ,"+> analysis compared to karyotypin! is that ,"+> analysis !i es you less information about all of the chromosomes bein! studied.

T>A#K+