Name: sex-linked disorders and inheritance patterns
Uploaded: 2021-04-07T12:11:58.000Z
Duration: 1 min 43 s
Channel: JoVE

K12 Standards

Louisiana Student Standards for Science

High School

Life Sciences

heredity-inheritance-and-variation-of-traits

Heredity: Inheritance And Variation Of Traits

HS-LS3-2

Sex Linked Disorders

- [강사] 일부 유전 질환은단일 유전자의 돌연변이가 원인입니다이것이 성염색체에서 발견되면이 장애는 성과 관련이 있다고 합니다유전자가 어떤 성염색체에 위치하는지그리고 적절한 기능을 위해 1개 또는 2개의복사본이 모두 필요한지에 따라이 질환들은 Y-연계X-연계 우성 또는 X-연계 열성으로 간주됩니다첫째, Y염색체 불임과 같은Y 연계 질환은Y염색체에 위치한 유전자의 돌연변이에 의해 발생하며아버지로부터 아들에게로만 전해집니다둘째, 프래길 X 증후군을 포함한X 연계 지배 장애는변이된 유전자 복사체 1개만 필요로 하고여성과 남성 모두에게 영향을 미치며아버지로부터 아들에게 전달될 수 없습니다마지막으로, X-연계 열성 질환이 있는데요이는 남성에게 훨씬 더 자주 영향을 미칩니다여성은 2개의 변이된유전자 복사체가 필요하기 때문이죠하지만, 영향을 받지 않는이형접합의 여성은 보균자가 될 수 있고그것을 아들에게 물려줄 가능성은 50%입니다예를 들어 듀시엔형 근이영양증 또는DMD라고 불리는 X-연계 열성 장애는거의 전적으로 소년들에게 영향을 미칩니다DMD는 골격과 심장 근육 세포의적절한 수축과 수리에 관여하는 단백질인디스트로핀 유전자의 돌연변이에 의해 발생합니다이러한 돌연변이는 근육 세포가 약해지고 결국위축되지 않는 다이스트로핀 단백질의 구조적또는 기능적인 변화로 이어질 수 있습니다

콜라코, 스테이시, 디팍 모디. "인간 Y 염색체의 유전학과 남성 불임과의 연관성." 생식 생물학 및 내분비학 16, no. 1 (2018): 14. [<a href="https://dx.doi.org/10.1186%2Fs12958-018-0330-5">출처</a>]

나카무라, 아키노리. "뒤셴 근이영양증에 대한 돌연변이 기반 치료 전략: 유전적 진단에서 치료까지." 맞춤형 의학 저널 9, no. 1 (2019): 16. [<a href="https://dx.doi.org/10.3390%2Fjpm9010016">출처</a>]

성 관련 장애

상염색체(autosomal chromosome; autosome)와 마찬가지로 성염색체(sex chromosome)는 정상적인 신체 기능에 필요한 다양한 유전자(gene)를 포함하고 있습니다. 성염색체 유전자 중 하나의 돌연변이가 생물학적 결함을 초래할 때, 그 결함은 반성(sex-linked)으로 여겨집니다.
 
 Y 염색체 돌연변이는 “Y-연관(Y-linked)”이라고 불리며, 남성만이 Y 염색체의 사본을 가지고 있기 때문에 남성에게만 영향을 미칩니다. Y 염색체에 생기는 돌연변이는 남성의 성 기능과 2차 성징에 영향을 미칠 수 있습니다. Y 염색체 불임은 정자 생산에 영향을 미치는 질환으로, Y 염색체의 무정자증 인자(azoospermia factor, 줄여서 AZF) 영역의 삭제로 인해 발생합니다. 일반적으로 Y-연관 질환은 아버지에게서 아들에게만 유전되지만, 영향을 받은 남성은 일반적으로 보조 생식 기술 없이는 아기를 만들지 못하기 때문에, Y 염색체 불임은 일반적으로 자손에게 유전되지 않습니다.
 
 X-연관 질환은 현성(dominant)이거나 잠성(recessive)일 수 있습니다 (주: 우성(dominant) 또는 열성(recessive)이라고 표현할 수 있지만, 우성/열성은 현성/잠성으로 개선해야 할 표현입니다). X-연관 현성 질환은 X 염색체에 돌연변이가 발생하여 남성과 여성 모두에게 영향을 미칠 수 있습니다. 그러나 취약 X 증후군(Fragile X syndrome) 같은 일부 질병은 여성보다 남성에게 더 심각한 영향을 끼치는데, 이는 남성이 두 번째 X 염색체 사본을 가지고 있지 않기 때문일 가능성이 높습니다. 취약 X 증후군은 학습장애를 포함한 광범위한 발달 상의 문제로 특징지어집니다. X-연관 저인산염혈증(X-linked hypophosphatemia)은 비타민 D 내성 형태의 구루병으로 발병하는 또 다른 X-연관 현성 질환입니다.
 
 잠성 돌연변이가 생물학적 결함을 일으키기 위해서는 염색체의 두 사본이 모두 변이되어야 합니다. 따라서 여성에게 X-연관 잠성 질환이 나타나려면 변이된 X 염색체 2개를 물려받아야 합니다. 반면, 남성은 단일 X 염색체가 돌연변이를 가지고 있을 경우 영향을 받습니다. 그 결과, 남성들은 색각이상, 뒤센 근위축증(Duchenne muscular dystrophy), 혈우병(hemophilia) 같은 X-연관 잠성 질환에 더 자주 영향을 받습니다.

상염색체와 마찬가지로 성염색체는 정상적인 신체 기능에 필요한 다양한 유전자를 포함하고 있습니다. 이러한 유전자 중 하나의 돌연변이가 생물학적 ...

Education

교육

JoVE Core

Molecular Biology

분자생물학

Unit 2

제2단원

Mendelian Genetics

멘델의 유전학

KEY TERMS AND CONCEPTS

주요 용어 및 개념

sex-linked disorders and inheritance patterns

Sex-linked disorders are genetic conditions that follow inheritance patterns tied to the sex chromosomes. These disorders help explain how certain traits can appear more often in one sex than the other.

The transcript focuses on examples of sex-linked disorders, including Y-linked infertility, Fragile X syndrome, and Duchenne muscular dystrophy. Y-linked infertility is passed through the Y chromosome, while Fragile X syndrome and Duchenne muscular dystrophy are associated with sex-linked inheritance on the X chromosome.

These examples show how the location of a gene on a sex chromosome affects who can inherit and express a disorder. Studying sex-linked disorders is an important part of Mendelian genetics because it connects chromosome inheritance with real genetic conditions.

Sex-Linked Disorders and Inheritance Patterns

sex-linked-disorders-inheritance-patterns

punnett squares

Predicting Traits with Punnett Squares

Punnett squares help students predict how traits may be passed from parents to offspring. They are a simple grid used in genetics to organize possible allele combinations. An allele is a version of a gene. The square compares the alleles each parent can give. By filling in the boxes, students can see possible genotypes, which are the genetic makeup of offspring. The results can also help connect those genotypes to traits that may appear in the next generation.

monohybrid crosses

Tracking One Trait in Monohybrid Crosses

Monohybrid crosses track how one trait is passed from parents to offspring. They are used to study inheritance when only a single characteristic is followed at a time. A monohybrid cross can compare the possible outcomes for a monogenic trait, which is a trait controlled by one gene. This approach helps show how one gene can shape different inherited forms of the same characteristic. The method also connects with Mendel's work on genetics. It is a useful way to predict patterns of inheritance...

dihybrid crosses

Predicting Two-Trait Genetic Crosses

Dihybrid crosses are used to predict how two traits can be passed from parents to offspring. A dihybrid cross tracks two genes at the same time, so it helps students see how different alleles can combine in a genetic pattern. This topic is closely tied to Mendelian genetics and independent assortment. Independent assortment means that allele pairs for different traits can separate into gametes independently of one another. When students work through a dihybrid cross, they can compare the...

trihybrid crosses

Forked Line Method for Trihybrid Crosses

Forked line method for trihybrid crosses helps predict the outcome of three-trait Mendelian crosses. A trihybrid cross studies three pairs of contrasting characteristics. It combines three separate monohybrid crosses. Common examples include plant height, seed shape, and seed color. In a typical trihybrid cross, the F1 plants are heterozygous for all three traits. They can produce eight different gametes. After self-fertilization, these gametes can lead to 64 genotype combinations in the F2...

law of independent assortment

Independent Chromosome Assortment in Meiosis

Independent chromosome assortment in meiosis explains how different gene pairs can be inherited independently. This idea is one of Mendel’s laws of inheritance and is often called the law of independent assortment. The pattern depends on how homologous chromosomes line up during meiosis I. Each chromosome pair orients independently of the others, so the maternal and paternal chromosomes can separate into different gametes in many combinations. This random separation helps create genetic...

chi-square analysis

Chi-Square Test in Genetics

The chi-square test in genetics helps compare expected and observed results. It is a statistical hypothesis test used to see whether a difference between an expected value and an observed value is significant. In genetics, it helps decide whether to accept or reject a hypothesis based on how far the observed data moves from the expected data. The test was developed by Pearson in 1990. The first step is to set up a null hypothesis. This hypothesis says there is no real difference between the...

pedigree analysis

Tracing Traits with Pedigree Charts

Pedigree analysis uses family trees, called pedigrees, to trace how traits and diseases pass from one generation to the next. A pedigree chart helps scientists and students see inheritance patterns clearly across relatives. The chart uses standard symbols to show family members and their relationships. It can reveal whether a trait is likely passed through dominant or recessive inheritance, and it can also help identify patterns linked to sex chromosomes. By studying a pedigree, it is...

multiple allele traits

Multiple Alleles in Trait Inheritance

Multiple alleles can shape how a trait is inherited in a population. A gene may have more than two allele forms, even though each person still carries only two alleles for that gene. These allele combinations can produce traits with more than two possible outcomes. The ABO blood group system is a common example of a multiple allele trait. It shows how different alleles can interact to determine an organism’s phenotype, or observable trait. Multiple allele traits help explain why inheritance...

incomplete dominance

Incomplete Dominance in Traits and Disease

Incomplete dominance is a pattern of inheritance where two alleles both affect a trait in a heterozygous organism. In this case, one allele is not fully dominant over the other. The result is a phenotype that looks like a blend or intermediate form. Gregor Mendel’s pea plant experiments helped explain the usual dominant and recessive pattern. He showed that each gene in a diploid cell has two alleles, one inherited from each parent. In his model, a dominant allele shows its effect with one or...

lethal alleles

When Genes Cause Embryonic Death

Lethal alleles can change inheritance patterns by causing death before birth. In mice, Lucien Cuénot studied the agouti gene, which helps control coat color through an agouti-signaling protein that affects melanin distribution in mammals. The wild-type allele produces a gray-brown coat, while the mutant allele produces a yellow coat. Cuénot also found that the yellow allele was linked to yellow mouse obesity syndrome. This syndrome is associated with early-onset obesity and tumors. When he...

polygenic traits

Traits Shaped by Many Genes

Polygenic traits are characteristics shaped by many genes acting together. This pattern is different from a single-gene trait, where one gene has a larger effect on the outcome. In polygenic inheritance, each gene adds a small contribution to the final trait. Height is a common example of a polygenic trait. Many genes influence human height, so the result can vary across a wide range. These small genetic effects combine to produce differences that are easy to see in a population. Polygenic...

background and environment affect phenotype

background-and-environment-affect-phenotype

How Genes and Environment Shape Traits

Genes and the environment work together to shape phenotype, or the visible traits of an organism. A phenotype can change because of genetic background, environmental conditions, or both. Factors such as temperature, oxygen availability, and mutagens can all influence how a trait appears. Horses show how one gene can affect coat color and how a modifier gene can change that result. The Extension gene controls pigment production in the coat. The wild-type genotype EE produces black pigment,...

x and y chromosomes

Sex Chromosomes in Human Inheritance

Sex chromosomes help determine biological sex in mammals, including humans. Humans have two sex chromosomes, X and Y. Each diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A female usually has two X chromosomes, while a male usually has one X chromosome and one Y chromosome. Egg and sperm cells carry only half the usual number of chromosomes. They contain 22 autosomes and one sex chromosome. Every egg has an X chromosome. Sperm cells can carry either an X or a Y...

the y chromosome determines maleness

Y Chromosome Structure and Male Traits

The Y chromosome is a sex chromosome that helps guide male development in humans and other vertebrates and mammals. Human males usually have one X chromosome and one Y chromosome, along with 22 pairs of autosomes. In these organisms, the presence or absence of the Y chromosome influences whether male traits develop. The Y chromosome evolved from an autosome about 300 million years ago, when two sex chromosomes began to diverge. Since then, it has lost most of its genes and become much smaller.

the ratio of x chromosome to autosomes

Drosophila Sex Determination by X:A Balance

In Drosophila, sex is determined by the balance between X chromosomes and autosomes, not by the X and Y chromosomes alone. The Y chromosome is active in these flies, but it does not set sex. Instead, it carries genes needed for sperm production in adult males. A normal male Drosophila has one X chromosome and two sets of autosomes. A normal female has two X chromosomes and two sets of autosomes. When this X:A ratio changes, flies can develop different sexual phenotypes, including metamales,...

x-linked traits

X-Linked Inheritance in Families

X-linked inheritance in families explains how traits linked to the X chromosome pass from parents to children. These traits are often tracked through family trees because the pattern can differ between males and females. A male has one X chromosome and one Y chromosome. A female has two X chromosomes. Because of this difference, a trait on the X chromosome can show up in a different way depending on the sex of the child. Family examples often include traits such as color blindness. Studying...

sex linked disorders

Sex-linked disorders are genetic conditions that follow inheritance patterns tied to the sex chromosomes. These disorders help explain how certain traits can appear more often in one sex than the other. The transcript focuses on examples of sex-linked disorders, including Y-linked infertility, Fragile X syndrome, and Duchenne muscular dystrophy. Y-linked infertility is passed through the Y chromosome, while Fragile X syndrome and Duchenne muscular dystrophy are associated with sex-linked...

dosage compensation

X-Chromosome Balance in Animals

X-chromosome balance in animals helps equalize gene expression between males and females. Sex can be determined by the number and type of sex chromosomes. In humans, females have two X chromosomes and males have one X and one Y chromosome. In C. elegans, one X chromosome is male, while two X chromosomes make a hermaphrodite. The X chromosome carries more than sex-related genes. It also includes genes involved in body functions such as brain development and the immune system. Because males and...

x-inactivation

X-Inactivation and Barr Bodies

X-inactivation is a process that reduces gene activity on one X chromosome. It helps balance gene expression in cells that have more than one X chromosome. A key result of this process is the formation of a Barr body, which is the inactive X chromosome seen in the nucleus. This topic also includes Xist, a gene linked to X-inactivation. Xist produces RNA that coats the X chromosome and helps turn it off. Together, Xist and the Barr body show how cells control X-linked genes during development...

blood types

Blood Types and Transfusion Matching

Human blood types help determine safe blood transfusion matching. Blood is classified by antigens on the surface of red blood cells and antibodies in the plasma. Correct blood typing matters because an unsafe match can affect transfusion success. The International Society of Blood Transfusion has identified 38 human blood types, and ABO, Rh, and MNS are among the most common. The ABO blood group depends on antigens made by genes on chromosome 9. Red blood cells carry a base glycoprotein called...

blood transfusion and agglutination

Matching Blood Types for Safe Transfusion

Blood transfusion is a medical treatment used to restore blood volume after major blood loss from an accident or a medical procedure. It works by taking blood from a suitable donor and giving it to a recipient. Safe transfusion depends on matching blood types and checking for immune compatibility. The history of blood transfusion began in the 17th century, when early experiments were done in animals. In 1818, James Blundell, a British doctor, performed the first successful human blood...

key terms and concepts

Learn how sex-linked disorders follow X-linked and Y-linked inheritance, with examples like Y-linked infertility, Fragile X syndrome, and Duchenne muscular dystrophy.

Sex-Linked Disorders and Inheritance Patterns | JoVE K12

molecular biology

JoVE Core 분자생물학은 명확하고 간결한 애니메이션을 통해 분자 단계에서 일어나는 세포 과정을 설명합니다.또한, 과학자가 직접 실험을 진행하는 실사 영상을 통해 분자생물학 개념의 응용 사례를 보여줍니다.

ohios-learning-standards-and-model-curriculum

Ohio’s Learning Standards and Model Curriculum

9-12

Biology

Heredity

Genetic mechanisms and inheritance

Alabama Course of Study Science

Heredity: Inheritance and Variation of Traits

9-12.B.3.11.a

Texas Essential Knowledge and Skills

BIO.8

BIO.8.B

myJoVE Corporation

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Chromatin Packaging

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Euchromatin

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Heterochromatin

chromatin-position-affects-gene-expression

Chromatin Position Affects Gene Expression

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Punnett Squares

Monohybrid Crosses

Dihybrid Crosses

Trihybrid Crosses

Trihybrid Crosses
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Law of Independent Assortment

Chi-square Analysis

The chi-square test is a statistical hypothesis test. It is used to check whether there is a significant difference between an expected value and an ...

Pedigree Analysis

Multiple Allele Traits

Incomplete Dominance

Gregor Mendel&#39;s work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid ...

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cu&#233;not discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is ...

Polygenic Traits

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as ...

Formulate, refine, and evaluate questions to clarify relationships about the role of DNA and chromosomes in coding the instructions for characteristic traits passed from parents to offspring. Emphasis should be on traits including completely dominant, codominant, incompletely dominant, and sex-linked traits (e.g., pedigrees, karyotypes, genetic disorders, Punnett squares). Examples do not need to include dihybrid crosses.

HS-LS3-1

X and Y Chromosomes

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The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome&#160;found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human ...

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined ...

X-linked Traits

Dosage Compensation

In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one ...

X-inactivation

What is Meiosis?

Meiosis is the process by which diploid cells divide to produce haploid daughter cells. In humans, each diploid cell contains 46 chromosomes, half from ...

Meiosis I

Meiosis II

Meiosis vs. Mitosis

Crossing Over

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Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This ...

Make and defend a claim based on evidence that inheritable genetic variations may result from: (1) new genetic combinations through meiosis, (2) viable errors occurring during replication, and/or (3) mutations caused by environmental factors. Emphasis is on using data to support arguments for the way variation occurs. Claims should not include the phases of meiosis or the biochemical mechanisms of specific steps in the process.

Mutations

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Apply concepts of statistics and probability to explain the variation and distribution of expressed traits in a population. Emphasis is on distribution and variation of traits in a population and the use of mathematics (e.g., calculations of frequencies in Punnett squares, graphical representations) to describe the distribution.

HS-LS3-3

Sex-Linked Disorders and Inheritance Patterns

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