Karyotyping ppt

A karyotype is an individual's collection of chromosomes. The term also refers to a laboratory technique that produces an image of an individual's chromosomes. The karyotype is used to look for abnormal numbers or structures of chromosomes. When I hear the word "karyotype", I think about a picture of chromosomes.

When somebody has their blood studied to look at how many chromosomes they have and whether the chromosomes are complete, we come up with a picture in which we can line up all the chromosomes and count them.

That way we can tell whether or not somebody has all the proper number of chromosomes, which is 46, and that way we can look at the X and the Y chromosomes and determine if it's a female or male.

Somebody might order a chromosome study and look at a karyotype if they were worried that a child might have an extra or missing bit of chromosome material. So one of the most common things we can see on karyotyping is an extra Chromosome 21, which is associated with Down syndrome. We also get karyotypes when pregnant women choose to have testing on their unborn fetus, and the karyotype allows the providers to look at and count the chromosomes to determine whether or not the child is affected by having an extra chromosome.

karyotyping ppt

Barbara Bowles Biesecker, Ph. Featured Content. Introduction to Genomics. Polygenic Risk Scores.Copy embed code:. Automatically changes to Flash or non-Flash embed. WordPress Embed Customize Embed. URL: Copy. Presentation Description No description available.

karyotyping ppt

Of AGB Veterinary College, Bangalore Definition: Definition It is the study of the structure and properties of chromosomes, chromosomal behaviour during mitosis and meiosis, chromosomal influence on the phenotype and the factors that cause chromosomal changes Hare and Singh, Rinse in distilled water. Wash the slide in phosphate buffer at pH 6.

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Rinse in phosphate buffer and mount in the same buffer. Examine under fluorescent microscope.

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Treat the slides in 0. Rinse in de-ionized water. Rinse in deionized water. Rinse in de-ionized water, dry and examine under oil immersion. Age the slides for 7 days. Place the slides in a Coplinjar containing phosphate buffer ofpH 6. Stain the slides in 0. Age the slide for 7 days. Rinse in PBS. Slides are stained in Hoechst stain for 10 min Rinse in phosphate buffer and examine in fluorescent microscope. Alternatively, the stained slides are covered with a cover slip and placed in a wet chamber under UV lamp for 2 to 3 hrs or under direct sunlight for 2 hrs.

Remove the cover slip and stain in Giemsa stain for 10 min. Rinse in buffer, dry and mount in DPX. Follow us on:. Go to Application. US Go Premium. PowerPoint Templates. Upload from Desktop Single File Upload. Karyotype jayarajvet. Post to :. URL :. Related Presentations :. Add to Channel. The presentation is successfully added In Your Favorites. Views: Like it 0. Dislike it 0. Added: May 19, Karyotyping is the process by which photographs of chromosomes are taken in order to determine the chromosome complement of an individual, including the number of chromosomes and any abnormalities.

The term is also used for the complete set of chromosomes in a species or in an individual organism [1] [2] [3] and for a test that detects this complement or measures the number. Karyotypes describe the chromosome count of an organism and what these chromosomes look like under a light microscope.

Attention is paid to their length, the position of the centromeresbanding pattern, any differences between the sex chromosomesand any other physical characteristics. The study of whole sets of chromosomes is sometimes known as karyology. The chromosomes are depicted by rearranging a photomicrograph in a standard format known as a karyogram or idiogram : in pairs, ordered by size and position of centromere for chromosomes of the same size.

The basic number of chromosomes in the somatic cells of an individual or a species is called the somatic number and is designated 2n. So, in normal diploid organisms, autosomal chromosomes are present in two copies. There may, or may not, be sex chromosomes. Polyploid cells have multiple copies of chromosomes and haploid cells have single copies. Karyotypes can be used for many purposes; such as to study chromosomal aberrationscellular function, taxonomic relationships, medicine and to gather information about past evolutionary events.

Their behavior in animal salamander cells was described by Walther Flemmingthe discoverer of mitosisin The name was coined by another German anatomist, Heinrich von Waldeyer in The next stage took place after the development of genetics in the early 20th century, when it was appreciated that chromosomes that can be observed by karyotype were the carrier of genes.

Darlington [8] and Michael JD White. Investigation into the human karyotype took many years to settle the most basic question: how many chromosomes does a normal diploid human cell contain? Joe Hin Tjio working in Albert Levan 's lab [14] found the chromosome count to be 46 using new techniques available at the time:.

The work took place inand was published in The karyotype of humans includes only 46 chromosomes. Human chromosome 2 is now known to be a result of an end-to-end fusion of two ancestral ape chromosomes.

The study of karyotypes is made possible by staining.

Karyotyping

Usually, a suitable dyesuch as Giemsa[19] is applied after cells have been arrested during cell division by a solution of colchicine usually in metaphase or prometaphase when most condensed.Spectral karyotyping is a novel technique for chromosome analysis that has been developed based on the approach of the fluorescence in situ hybridization technique.

Spectral karyotyping makes it feasible to diagnose a variety of diseases, because of its technology in painting each of the 24 human chromosomes with different colors. In recent years, it has become possible to adopt the usage of spectral karyotyping for research in general clinical practice, and its usability has attracted particular attention in the diagnosis of different diseases. In this review, we will explain the principle of the spectral karyotyping, as well as its specificity and limitation in detecting the genetic defects within clinical application by presenting two case reports.

The first report of human chromosomes was made in by Flemming, in which 22—28 chromosomes in the dividing cells of the corneal epithelium were described [ 1 ].

Forty years later, Painter reported that the number of human chromosomes was 48 and that sex was determined according to the presence or absence of the Y chromosome [ 1 ]. Following this report, the relationships between various congenital disorders and chromosomal abnormalities have been revealed one after another.

InLejeune et al.

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This finding of chromosome trisomy was a turning point in the subsequent discovery of several other trisomy syndromes, including chromosomes 18 [ 45 ], 13 [ 6 ], 8 [ 7 ], and 22 [ 89 ]. Besides the chromosomal number aberrations, abnormalities associated with sex chromosomes, viz. An increased understanding of malignant diseases in the s and the advent of better cell culture methods including a method of culturing peripheral blood [ 13 ] led to the first discovery of chromosomal abnormalities in malignant tumors, the Ph 1 chromosome, which is specific to chronic myelogenous leukemia [ 14 ].

Genetic analysis studies, represented by the Human Genomic Project [ 15 ], led to the application of modern genetics tools in research in biological phenomena such as the development, evolution, and aging, as well as abnormal cellular differentiation including cancers. Therefore, in the course of studying human chromosomes for more than a century, many new techniques have been developed for chromosome testing.

InCaspersson, et al. Later, improved staining techniques, including R- T- C- and G-staining, have appeared. The analysis of the band has further advanced and now it has been developed into high-resolution chromosome banding [ 17 ]. Furthermore, along with the development of the fluorescent in situ hybridization FISH technique [ 18 ], which involves the mapping of a chromosome using fluorescent labeled probe, it has become possible to identify chromosomal microdeletion and structural abnormalities such as the extra portion of a chromosome and a marker chromosome.

FISH has also been used in diagnosing abnormalities, caused by chromosomal aneuploidy—which are difficult to detect via conventional test methods. Comparative genomic hybridization CGH [ 19 ] and spectral karyotyping SKY [ 20 ], which are based on the FISH technique, are relatively recent and improved techniques of chromosomal analysis. SKY as described here refers to the multicolor-FISH technique, which makes it possible to identify 24 human chromosomes via single hybridization and then to stain them with different colors.Students will be challenged to examine the sample chromosomes from the Human Chromosome handout by identifying the location of specific genes on each chromosome.

Students will answer the accompanying comprehension questions to further understanding of the structure of chromosomes. After students have had the opportunity to complete the handout, the class will review the correct responses. Students are encouraged to ask for clarifying details regarding the anticipatory activity. Students will asked to activate their prior knowledge regarding DNA and chromosomes from a previous lesson as the class moves forward in their introduction of karyotypes.

Students are encouraged to ask questions for clarification or additional details throughout the lecture to support student learning. Students are encouraged to keep their lecture notes and textbooks out to use as a reference for this hands-on activity to reinforce the concepts of using karyotypes to understand how DNA will determine the traits expressed by an individual. Once the students have received the necessary supplies, it is time for our DNA Detectives to emerge.

Step 1 : Students are tasked with the responsibility of pairing homologous chromosomes for each of the pairs, as well as identifying the sex chromosomes to make the 23rd pair. Students will use the sample karyotype as a guide in identifying the number identification of each chromosome, as well as identifying its homologous pair. Students will need to use the scissors to cut out each individual chromosome from the sheet and affix it next to its homologous pair on their sheet of paper.

Students will complete this process until all 22 autosomal chromosomes have been paired up, as well as the 23rd set of chromosomes to determine gender. HINT: Students should use the height of the chromosomes and the banding pattern to identify the homologous pairs.

Step 2 : Once students have completed their karyotype it is time to analyze the chromosomes to determine the gender and whether there are chromosomal abnormalities. Step 3 : Students will use their newly created karyotypes as a reference to respond to each of the comprehension questions at the bottom of the student activity handout. Sample of Student Work 1: Paper Karyotype : This sample demonstrates a karyotype for a genetically normal female.

Sample of Student Work 2: Paper Karyotype : This sample demonstrates a karyotype for a female with trisomy 21 also known as Down Syndrome. Students will work in collaborative pairs to debrief their responses to the activity comprehension questions.

Keep in mind that student-pairs will have different responses based on which one of the possible karyotypes they received at the start of the activity. The students will share in a whole-group discussion to identify the correct identifications of the four sample karyotypes:.

The Purpose and Steps Involved in a Karyotype Test

For homework, students will complete an online karyotype activity as homework. Students will record their observations and answers to the questions that are contained within the site. The website was created by University of Arizona's Biology Project and provides the opportunities to create and analyse chromosomes while creating a karyotype. This sample of student work demonstrates the opportunity to practice our genetics curriculum while infusing technology and real life examples into the experience!

karyotyping.ppt

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karyotyping ppt

Professional Learning. Learn more about. Sign Up Log In. High School Biology Ashley Cooper. Guided Practice - Creating Karyotypes. Creating Karyotypes Add to Favorites 20 teachers like this lesson. SWBAT analyze human chromosomes to determine genetic traits that will be expressed by that individual based on the genetic composition of the sample karyotype. Students will examine sample karyotypes to identify gender and common genetic abnormalities.

Lesson Author. Grade Level. HS-LS Ask questions to clarify relationships about the role of DNA and chromosomes in coding the instructions for characteristic traits passed from parents to offspring.After you enable Flash, refresh this page and the presentation should play. Get the plugin now. Toggle navigation. Help Preferences Sign up Log in. To view this presentation, you'll need to allow Flash. Click to allow Flash After you enable Flash, refresh this page and the presentation should play.

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Latest Highest Rated. Dehydrate the slides by dipping in alcohol with decreasing concentration 90, 70 and 50 one min each. Rinse in distilled water. Wash the slide in phosphate buffer at pH 6.

Stain the slide in quinacrine mustard 5 mg in mI or in quinacrine dihydrochloride 5 for 20 min. Rinse in phosphate buffer and mount in the same buffer.

KARYOTYPING - PowerPoint PPT Presentation

Examine under fluorescent microscope. Treat the slides in 0. Rinse in de-ionized water. Immerse in 1 barium hydroxide at 50C for min.

Karyotyping - PowerPoint PPT Presentation

Rinse in deionized water. Rinse in de-ionized water and stain in 4 Giemsa stain for 90 min. Rinse in de-ionized water, dry and examine under oil immersion. Age the slides for 7 days. Place the slides in a Coplinjar containing phosphate buffer ofpH 6. Stain the slides in 0. Age the slide for 7 days. Rinse in PBS.If your doctor has recommended a karyotype test for you or your child, or after an amniocentesiswhat does this test entail?

What conditions may a karyotype diagnose, what are the steps involved in doing the tests, and what are its limitations?

A karyotype is a photograph of the chromosomes in a cell. Karyotypes can be taken from blood cells, fetal skin cells from amniotic fluid or the placentaor bone marrow cells. Karyotypes can be used to screen for and confirm chromosomal abnormalities such as Down's syndrome and Cat Eye Syndromeand there are several different types of abnormalities which may be detected.

Chromosomal abnormalities:. Translocations - There are many examples of translocations including translocation Down syndrome.

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Robertsonian translocations are fairly common, occurring in roughly 1 in people. Mosaicism is a condition in which some cells in the body have a chromosomal abnormality while others do not.

For example, mosaic Down syndrome or mosaic trisomy 9. Full trisomy 9 is not compatible with life, but mosaic trisomy 9 may result in a live birth. There are many situations in which a karyotype may be recommended by your physician.

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A karyotype test may sound like a simple blood test, which makes many people wonder why it takes so long to get the results. This test is actually quite complex after collection. Let's take a look at these steps so you can understand what is happening during the time you are waiting for the test.

The first step in performing a karyotype is to collect a sample. A karyotype will be done on the white blood cells which are actively dividing a state known as mitosis. During pregnancy, the sample can either be amniotic fluid collected during an amniocentesis or a piece of the placenta collected during a chorionic villi sampling test CVS.

The amniotic fluid contains fetal skin cells which are used to generate a karyotype. Karyotypes are performed in a specific laboratory called a cytogenetics lab——a lab which studies chromosomes. Not all hospitals have cytogenetics labs. The test sample is analyzed by specially trained cytogenetic technologists, Ph.

In order to analyze chromosomes, the sample must contain cells that are actively dividing. In blood, the white blood cells actively divide. Most fetal cells actively divide as well. Once the sample reaches the cytogenetics lab, the non-dividing cells are separated from the dividing cells using special chemicals. In order to have enough cells to analyze, the dividing cells are grown in special media or a cell culture. This media contains chemicals and hormones that enable the cells to divide and multiply.

This process of culturing can take three to four days for blood cells, and up to a week for fetal cells. Chromosomes are a long string of human DNA.

In order to see chromosomes under a microscope, chromosomes have to be in their most compact form in a phase of cell division mitosis known as metaphase. In order to get all the cells to this specific stage of cell division, the cells are treated with a chemical which stops cell division at the point where the chromosomes are the most compact.

In order to see these compact chromosomes under a microscope, the chromosomes have to be out of the white blood cells.


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