[2024/02/15] 체코 찰스 의대 프리메드 – 입학시험 ★ 생물학(Biology) #17&18. Chromosome Disorders 염색체 장애 & Biotechnology

Biology 15.02.2024 * 이미지 자료 등은 저작권 때문에 들어가지 않는다. 자료 중간에 빈칸이 많은 곳은 그림이 들어가는 부분이고, 직접 그리고 공부할 예정이다. 참고할 분은 아래 파일 속 그림 참고▼첨부파일 016-Chromosome-Disorders.ppt 파일 다운로드 내에 컴퓨터를 저장 Biology 15.02.2024* 이미지 자료 등은 저작권 때문에 넣지 않는다. 자료 중간에 빈칸이 많은 곳은 그림이 들어가는 부분이고, 직접 그리고 공부할 예정이다. 참고하실 분은 아래 파일 속 그림 참고 ▼ 첨부파일 016-Chromosome-Disorders.ppt 파일 다운로드 내 컴퓨터 저장

네이버 MYBOX에 저장 네이버 MYBOX에 저장

1) 염색체 장애 염색체장애 -> (1)염색체돌연변이 염색체 돌연변이 & (2) 게놈 돌연변이 게놈 돌연변이 – 자연임신중절의 약 절반을 차지하며 약 1%의 신생아에게 영향을 줍니다 ※ 유전자장애 분류 – 단유전자장애 (2%) – 염색체장애 (1% 미만) – 다인자장애 (60%) ※돌연변이의 종류 1) 염색체 장애 염색체장애 -> (1)염색체돌연변이 염색체 돌연변이 & (2) 게놈 돌연변이 게놈 돌연변이 – 자연임신중절의 약 절반을 차지하며 약 1%의 신생아에게 영향을 줍니다 ※ 유전자장애 분류 – 단유전자장애 (2%) – 염색체장애 (1% 미만) – 다인자장애 (60%) ※돌연변이의 종류

돌연변이 클래스 기구 주파수의 예 Genome Chromosomemis segration 10-² / 세포분열 이체 염색체 재배열 10-⁴ / 세포분열 전위 유전자 염기쌍 변이 10 – – ¹⁰ / 세포분열점 변이 돌연변이의 등급 기구 주파수의 예 Genome Chromosomemissegration 10 -² / 세포분열 이체 염색체 재배열 10 – ⁴ / 세포분열 전위 유전자 염기쌍 변이 10 – ¹⁰ / 세포분열점 변이

(1) 染色体突然変 chromosome mutation = 染色体構造の 常: 欠失、 chromosome partial chromosome interchange 均衡再配列 (2) ゲノム突然変 chromosome mutations バランシング再配列 when the arms of chromosomes are mirror-symmetric during gene duplication: 転、挿入、 (reciprocal/Robertsonian) translocations ❶ Inversion ❷ insertion ❸ Reciprocal translocation: The phenomenon in which parts of chromosome are exchanged between two chromosomes that are not homologous due to translocation ❹ Robertsonian translocation: A partial chromosomal exchange between two chromosomes occurs when two chromosomes are integrated, and the long-arm chromosome is attached between the long-arm chromosome (2) による染色体数の 常 接 mutations 発 with no 半数体染色体数の combination 確な倍数 [chance 常] – 複、イソ染色体 ❶ 欠失 ❷ normal chromosome number is the exact multiple of the original basic number of the species) * AneuploidyMercury) – トリソミー、モノソミー (multiplicity) – 倍体 (3n), 、 倍体 (4n), の染色体の, ダウン症候群, 接, 裂, ❶ 減数, and down syndrome. Citing John Langdon Down, a British physician who was the first to describe the characteristics of the condition, the chromosome of a normal person in a given 倍体 consists of two pairs, but Down syndrome patients have three chromosomes, so Down syndrome is also called 21st trisomy 21. It occurs when excess chromosomes combine with other chromosomes (potential), and cell division errors mix cells with abnormal cells (mosaic-type) 환자 These chromosome abnormalities characterize Down syndrome patients’ appearance and mental retardation, flat face with eyes, plump eyes, small ears, nose and mouth, short fingers and toes, and low intelligence. ❷ Nondisjunction and Sex Chromosomes ex) Turner syndrome (Turner syndrome) A disease caused by the change of sex chromosomes, which should normally exist in the form of XX or XY, to X single chromosomes (45, X) or X partial chromosomes. 45, X occurs in 1.5% of the total, but 99.9% of the fetus is miscarried and only 0.1% is survived, so Turner syndrome, a birth 세포, can be classified into three major categories depending on whether the X chromosome exists as a single chromosome, a partial single chromosome with a structural abnormality, or a mosaic type. Ex) Klinefelter syndrome (Klinefelter syndrome) Generally, male chromosomes are 46,XY, but when there is more than one X chromosome, it is called Kleinfelter syndrome. During the formation of eggs or sperm, the X chromosomes must be paired and then separated into a single X, and this condition occurs when an egg or sperm with extra X chromosomes is used for conception.. 47,XXY is the most common, accounting for 80-90%, and Maternalism (46, XY/47,XXY) accounts for about 10%. Some of the バイオテクノロジー may have 48,XXXY,49,XXXY.2) 離 (= DNA テクノロジー) Biotechnology = Technology to artificially manipulate itself in order to utilize useful characteristics of living things ※ DNA extraction ① 細胞 または緩衝液による ② プロテインの除去 希釈 ** エタノールによる DNA (ゲノム) DNA (プラスミド) extraction has the same basic principle, but a 、 plasmid must go through the step of separating the plasmid from the genomic DNA. DNA extraction from cells is largely divided into three stages: cell harvest, destruction, DNA extraction and DNA purification. (1) Cell harvesting In general, in order to separate DNA from destructive cells of harvesting (2) cells by rotating a culture containing mycelium using centrifugation, the cell walls and cell membranes must first be disassembled to allow intracellular DNA to leak out of the cells. Methods of destroying cell walls and cell membranes are divided into physical and chemical methods. 、 The physical method is to destroy cells by mechanical force, and the chemical method is to dissolve the cell wall through chemicals. -> Chemical methods are mainly used for DNA separation 欠失、 For bacteria with thick cell walls, lysozyme enzymes or ethylenediaminetetraacetic acids (EDTA) are treated to break down cell walls バランシング再配列 lysozyme cuts polymer compounds on cell walls, and EDTA removes magnesium ions that maintain the structure of the cell envelope and inhibits the activity of nucleic acids. Treatment of sodium dodecyl sulfate (SDS), a type of 複、イソ染色体 ❶ 欠失 ❷ cleaner, breaks down cell membranes. 染色体突然変 SDS breaks down (1) chromosomal mutations with different 染色体構造の = 常 (strain of chromosome structure) 均衡再配列: 常 of abnormal forms of chromosomes in which the arms of chromosomes are mirror-symmetric during gene cloning ② 転、挿入、: Inversion ❷ insertion ❸ ❶ Reciprocal Translocation: The exchange of parts of chromosomes between two chromosomes instead of being homologous due to the translocation ❹ Robertson as a 複 ❸ イソ染色体 of ❹onian Translocation : Partial chromosome interchange phenomenon ゲノム突然変 (2) 接 genomic mutations による染色体数の that differ in number of chromosomes due to unsegregated chromosomes due to cleavage at both chromosome mobilization sites

DNA extraction was first attempted by Friedrich Miescher in 1869. The method of extracting DNA containing all genetic information necessary for life depends on cell tissue and type of DNA. Generally, DNA is extracted and purified by a chemical extraction method and a physical method such as centrifugation. [Contents] 1. Basic principles of DNA extraction 1.1. Cell harvest 1.2. Cell destruction 1.3. DNA extraction and purification 2. Plasmid extraction 2.1 Plasmid extraction and purification using differences in size 2.2 The terms.naver.com DNA extraction method using structural differences was first attempted by Friedrich Miescher in 1869. The method of extracting DNA containing all genetic information necessary for life depends on cell tissue and type of DNA. Generally, DNA is extracted and purified by a chemical extraction method and a physical method such as centrifugation. [Contents] 1. Basic principles of DNA extraction 1.1. Cell harvest 1.2. Cell destruction 1.3. DNA extraction and purification 2. Plasmid extraction 2.1 Plasmid extraction and purification using differences in size 2.2 Pla utilizing structural differences…terms.naver.com

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By using polymerase chain reaction DNA polymerase to make various replicas of DNA fragments at once, genes at a specific site can be exponentially amplified in a short period of time with only a very small amount of DNA. | Foreign Language Mention | Polymerase Chain Reaction (Chinese characters) | Abbreviations | PCR | Source: How to amplify specific DNA sequences within Getty Images Korea test tubes. This is a method of heating and cooling with heat-stable DNA polymerase…terms.naver.com polymerase chain reaction DNA polymerase at once to use a single strand formed by continuously separating double helixes of DNA, and a very small amount of DNA can be amplified geometrically in a short time. | Foreign Language Mention | Polymerase Chain Reaction (Chinese characters) | Abbreviations | PCR | Source: How to amplify specific DNA sequences within Getty Images Korea test tubes. This is a single strand formed by continuous separation of double helixes of DNA, which is heated and cooled with heat-stable DNA polymerase to be used as the source of the new double helix…terms.naver.com

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It is to selectively amplify only some of the DNA (deoxyribonucleic acid) possessed by DNA examiners with very high polymorphism using DNA amplification technology to identify differences in genotypes between individuals and identify them. | Foreign Language | DNA fingerprinting | Source: Getty Image Korea DNA test is to selectively amplify only some of the DNA (deoxyribonucleic acid) that humans have very high polymorphism using DNA amplification technology to identify differences in genotypes between individuals and identify them. This is a DNA shape that varies from person to person like fingerprints… terms.naver.com DNA examiners selectively amplify only some of the hypermorphic hypermutabilities of DNA (deoxyribonucleic acid) that are very polymorphic using DNA amplification technology to identify differences in genotypes between individuals. | Foreign Language | DNA fingerprinting | Source: Getty Image Korea DNA test is to selectively amplify only some of the DNA (deoxyribonucleic acid) that humans have very high polymorphism using DNA amplification technology to identify differences in genotypes between individuals and identify them. It’s like a fingerprint on a finger, and each person has a different DNA shape… terms.naver.com

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Restrictive Enzyme – Wikipedia, Encyclopedia Restrictive Enzyme 47 Language Documents for All of Us discussion reading editorial history US>View Tools Wikipedia, the encyclopedia of all of us. The source of this document is not clear. Edit this document to indicate a trusted source. Unverified content may also be deleted. Please divide your opinions on the content into discussion documents. (August 2013) A restriction enzyme or restriction internal nucleic acid hydrolytic enzyme recognizes a specific base sequence of double-stranded DNA molecules and its …ko.wikipedia.org restriction enzyme – Wikipedia, 47-language encyclopedia restriction enzyme for all of us discussion reading editorial history US>View Tools Wikipedia, the encyclopedia of all of us. The source of this document is not clear. Edit this document to indicate a trusted source. Unverified content may also be deleted. Please divide your opinions on the content into discussion documents. (August 2013) A restriction enzyme (restriction enzyme) or restriction internal nucleic acid hydrolytic enzyme (restriction endonuclease) recognizes a specific base sequence of a double-stranded DNA molecule and identifies its … ko.wikipedia.org

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It is a special enzyme used to make recombinant DNA by genetic engineering as an endonuclease (one of the nucleic acid-degrading enzymes) that identifies a specific base sequence of restriction enzyme DNA and cuts double chains. The phenomenon of temporarily changing DNA in an unrestricted state by methylating a specific base in a base sequence recognized by a restriction enzyme is called esophagy, and the enzyme that acts like this is called esophagy enzyme. The phenomenon related to restriction enzymes has been studied since the early 1960s, and was identified by Swiss microbiologist W. Arbor in the bacteriophage and Escherichia coli system. In the early 1970s, it is a special enzyme used by genetic engineering to make recombinant DNA. The phenomenon of temporarily changing DNA in an unrestricted state by methylating a specific base in a base sequence recognized by a restriction enzyme is called esophagy, and the enzyme that acts like this is called esophagy enzyme. Symptoms associated with restriction enzymes have been studied since the early 1960s, and have been elucidated by Swiss microbiologist W. Arbor in the bacteriophage and E. coli systems. In the early 1970s, American microbiologist H…terms.naver.com

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Quantitative real-time PCR (qPCR) is an experimental method based on polymerase chain reaction and can calculate the initial amount of DNA present in a sample by monitoring products amplified during PCR in real time. In other words, it is a molecular biological technology that has high detection sensitivity and is very useful for gene mutation analysis such as detecting trace pathogens, quantifying gene expression (mRNA expression), and single-base polyplasia (SNP) analysis. [Neck…terms.naver.com quantitative real-time PCR (qPCR) is an experimental method based on polymerase chain reaction and can calculate the initial DNA amount present in the sample by monitoring the products amplified during PCR in real time. In other words, it is a molecular biological technology that has high detection sensitivity and is very useful for gene mutation analysis such as detecting trace pathogens, quantifying gene expression (mRNA expression), and single-base polyplasia (SNP) analysis. [首···terms.naver.com

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In the experimental method, a blasting nucleic acid or protein is electrically transferred, and then a nitrocellulose membrane having chemically active activity is superimposed on the gel to photograph the nucleic acid or protein as it is. A target molecule is detected by using a complementary labeled nucleic acid or an antibody. There are three methods of analysis to detect specific DNA, RNA, and proteins: Southern Blotting, Northern Blotting, and Western Blotting. terms.naver.com An experimental method for electro-movement of blasting nucleic acid or protein and photographing nucleic acid or protein obtained by superimposing and separating a chemically active nitrocellulose membrane on a gel as it is. A target molecule is detected by using a complementary labeled nucleic acid or an antibody. There are three methods of analysis to detect specific DNA, RNA, and proteins: Southern Blotting, Northern Blotting, and Western Blotting. terms.naver.com

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Southern blotting means transferring nucleic acids or proteins deployed in electrophoresis gel to membranes such as nitrocellulose. Southern blotting refers to the transfer of DNA spread on Agarose gel to membranes such as Nitrocellulose and then the DNA desired by DNA predators (probe), which is also used in the sense of Southern hybridization. terms.naver.com Southern Blotting means transferring nucleic acids or proteins deployed in electrophoresis gel to membranes such as nitrocellulose. Southern blotting refers to the transfer of DNA spread on Agarose gel to membranes such as Nitrocellulose and then the DNA desired by DNA predators (probe), which is also used in the sense of Southern hybridization. terms.naver.com

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It is an experimental method used to detect and quantify specific base sequences or specific genes in Northern Blotting RNA. In principle, it is almost the same as the Southern blotting method, but it is a method of transferring RNA divided by gel electrotransfer method to a diazobenzyl oxymethylcellulose (DBM) filtration site. RNA transferred to DBM filtration paper is detected by automatic radiography with hybrid molecules made by RNA-DNA hybridization using probe DNA labeled with radioisotopes. terms.naver.com It is an experimental method used to detect and quantify specific base sequences or specific genes in Northern Blotting RNA. In principle, it is almost the same as the Southern blotting method, but it is a method of transferring RNA divided by gel electrotransfer method to a diazobenzyl oxymethylcellulose (DBM) filtration site. RNA transferred to DBM filtration paper is detected by automatic radiography with hybrid molecules made by RNA-DNA hybridization using probe DNA labeled with radioisotopes. terms.naver.com

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It is one of the methods of detecting a small amount of specific protein from a protein mixed with the Western Blotting method. In 1975, U.S. company E. M. Southern developed a method to detect DNA by transferring DNA fragments electrically transferred from agarose plates to nitrocellulose membranes and mixing DNA or RNA radiolabeled on the membranes. This method is called Southern blotting, and the method of detecting RNA electrical movement is Northern blotting, and the method of detecting proteins by electrical movement is one of the methods of detecting trace amounts of specific proteins from proteins mixed with terms.naver.com Western blotting. In 1975, U.S. company E. M. Southern developed a method to detect DNA by transferring DNA fragments electrically transferred from agarose plates to nitrocellulose membranes and mixing DNA or RNA radiolabeled on the membranes. This method is called Southern blotting, and the method of detecting RNA electrical transfer is Northern blotting, and the method of detecting protein by electrical transfer is called terms.naver.com

 

 

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