Name: x- and y-linked disorder patterns
Uploaded: 2025-10-23T11:47:17.000Z
Duration: 1 min 43 s
Channel: JoVE

K12 Standards

Virginia  Standards of Learning

HIgh School

Life Science

LS.10

LS.10.c

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>]

반성유전 질환

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

Biology

생물학

Genetics

유전학

Classical and Modern Genetics

고전 유전학과 현대 유전학

KEY TERMS AND CONCEPTS

주요 용어 및 개념

x- and y-linked disorder patterns

X- and Y-linked disorders come from mutations in genes on the sex chromosomes. These genes, like those on autosomes, are needed for normal body function. When a mutation causes a biological problem, the condition is called sex-linked.

Y-linked disorders come from changes in the Y chromosome. They affect only males, because only males carry a Y chromosome. Mutations in this small chromosome can affect male sexual function and secondary sex characteristics. One example is Y-chromosome infertility, which lowers sperm production because of deletions in the azoospermia factor, or AZF, regions of the Y chromosome.

Y-linked disorders are usually passed from father to son. In many cases, affected males do not father children without assisted reproductive technologies. Because of that, Y-chromosome infertility is not typically passed on to offspring.

X-linked disorders can be dominant or recessive. X-linked dominant disorders come from a mutation on the X chromosome and can affect males or females. Fragile X syndrome is one example. It can cause a wide range of developmental problems, including learning disabilities, and it often affects males more severely because they do not have a second normal X chromosome. X-linked hypophosphatemia is another dominant condition, and it causes a vitamin-D-resistant form of rickets.

X-linked recessive disorders require both copies of a chromosome to carry the mutation for females to show the condition. Males are affected if their single X chromosome has the mutation. That is why males are affected more often by X-linked recessive conditions such as color blindness, Duchenne muscular dystrophy, and hemophilia.

X- and Y-Linked Disorder Patterns

genetic lingo

Genotype, Phenotype, and Inheritance

Genotype, phenotype, and inheritance help explain how traits and disease risk are passed from parents to offspring. In diploid organisms, including humans, most other animals, and many plants, somatic cells carry a duplicate set of chromosomes. These chromosome pairs are homologous, with similar length, centromere position, and gene locations. Diploid organisms inherit two versions of each gene, one from each parent. These versions are called alleles, and they sit at the same relative locus,...

punnett squares

Punnett Squares for Predicting Traits

Punnett squares help predict which traits offspring may inherit from two parents. They show possible genotypes, which are pairs of alleles, and can also show the chance of a phenotype, or visible trait, when the inheritance pattern is known. These grids work best for traits controlled by a single gene locus and passed on independently during meiosis. Punnett squares were developed in the early 1900s by Reginald Punnett. His work came after Gregor Mendel’s pea plant experiments revealed the...

monohybrid crosses

Mendel’s Pea Plant Inheritance Ratios

Gregor Mendel used pea plants to study how traits are passed from parents to offspring. His breeding experiments in the 1850s and 1860s showed that inheritance follows clear patterns. He crossed true-breeding plants that differed in one trait and found that dominant traits can hide recessive traits. Mendel focused on seven pea plant traits, and each trait had two forms controlled by a single gene locus. He noticed that true-breeding plants always produced offspring with the same phenotype, or...

dihybrid crosses

Mendel's Law of Independent Assortment

Mendel’s law of independent assortment explains how two traits can be inherited separately. Gregor Mendel tested this idea with pea plants that differed in two characteristics, such as pea color and pea shape. He used true-breeding parents that were homozygous for both traits but showed different phenotypes. In one example, Mendel crossed round, yellow peas with wrinkled, green peas. The parental generation had RRYY and rryy genotypes. Their first-generation offspring were all dihybrids,...

law of segregation

Mendel’s Pea Cross Ratios

Mendel’s pea plant crosses show how traits can disappear in one generation and return in the next. When he crossed plants, one parental trait sometimes seemed to vanish in the F1 generation and reappear in the F2 generation. Mendel used this pattern to explain why some traits are dominant and others are recessive. He proposed that traits are controlled by alleles, which are different versions of a gene. An organism inherits two copies of each gene, one from each parent. In his model, a...

law of independent assortment

Mendel’s Dihybrid Cross and Trait Ratios

Mendel’s dihybrid cross shows how two traits are inherited at the same time. A dihybrid cross is a cross in which both parents are homozygous for two distinct traits, and the F1 generation is heterozygous for both traits. Mendel used pea plants with round yellow peas and wrinkled green peas as an example. One parent had genotype YYRR, and the other had genotype yyrr. In the F1 generation, every plant showed the dominant traits, so the plants were YyRr and had yellow, round peas. The F2...

probability laws

Inheritance Risk with Sum and Product Rules

Inheritance risk can be calculated with the sum rule and the product rule. The sum rule applies to mutually exclusive events, or events that cannot happen at the same time. The product rule applies to independent events, or events that do not affect one another. These rules describe theoretical probability, which is the chance of an event before it happens. Empirical probability is different because it is based on events that have already occurred. These probability rules are useful in...

test cross

Using Test Crosses to Identify Genotypes

Test crosses are used to identify the genotype of an organism with a dominant trait. A genotype is the pair of alleles inherited for a gene, and alleles are different forms of the same gene. In diploid organisms, including humans, each gene usually has two alleles, one from each parent. An allele is recessive when its effect is hidden by another allele at the same gene location. Pea plants provide a clear example with flower color. White flowers are recessive, because one copy of the purple...

polygenic traits

Polygenic Traits in Human Height

Polygenic traits are traits controlled by more than one gene. Human height is a clear example of this kind of inheritance. Because many genes work together, the final trait can vary a lot from person to person. Researchers have found hundreds of loci, or gene locations, that influence height. There are likely many more that have not yet been identified. Many of these genes affect cartilage in the growth plates of the long bones in the arms and legs, either directly or indirectly. Height is...

pedigree analysis

Reading Family Traits in Pedigrees

Pedigrees are family trees used to track how a trait passes through generations. They help scientists and students see whether a trait is dominant or recessive, whether it is autosomal or sex-linked, what genotypes family members may have, and what phenotypes may appear in future generations. For families with a history of inherited disease, this information can be important for family planning. In plants and animals, inheritance is often studied with crosses. Monohybrid crosses can show...

multiple allele traits

Blood Type and Allele Interactions

Multiple alleles can shape traits through blood type, sickle cell anemia, incomplete dominance, and codominance. Multiple allelism means a gene has three or more allelic forms. Diploid organisms, including humans, usually carry only two alleles for each gene, but many human genes exist in multiple forms in the population. Human blood type is a clear example of multiple allelism. The blood type gene has three alleles: I A , I B , and i. These alleles help determine which blood type a person has...

epistasis

Gene Masking in Rabbit Fur Color

Epistasis describes how one gene can mask or change the effect of another gene. In high school genetics, this helps explain why many traits do not follow a simple single-gene pattern. Instead, alleles at different locations can work together to shape the final phenotype. Mendel studied seven unrelated pea traits, but most traits involve multiple gene interactions. Epistasis often happens when one gene interferes with the expression of another gene. It can also occur when genes are part of the...

nature and nurture

Genes and Environment Shape Height

Genes and environment both shape human height and other traits. Genes are the inherited instructions we get from our parents. Environment includes factors such as diet, stress, and social conditions. Many phenotypes, or observable traits, reflect both influences. Some also show up later in life, including cancer and other diseases. Height is a clear example of this interaction. Scientists estimate that 70-90% of height variation comes from genetic differences among people. The remaining 10-30%...

pleiotropy

SOX10 and Multiple Traits in Pleiotropy

Pleiotropy is when one gene affects more than one trait. The SOX10 gene is a clear example because it can influence pigmentation, hearing, and intestinal movement. These traits may seem unrelated, but they can all be linked to the same gene change. In humans, a deleted region in SOX10 can cause Waardenburg Syndrome Type 4, or WS4. WS4 is an autosomal recessive disorder, which means a person usually inherits two altered copies of the gene. Common signs include a white forelock,...

sex-linked disorders

X- and Y-linked disorders come from mutations in genes on the sex chromosomes. These genes, like those on autosomes, are needed for normal body function. When a mutation causes a biological problem, the condition is called sex-linked. Y-linked disorders come from changes in the Y chromosome. They affect only males, because only males carry a Y chromosome. Mutations in this small chromosome can affect male sexual function and secondary sex characteristics. One example is Y-chromosome...

x-linked traits

X-Linked Inheritance in Families

X-linked inheritance explains how traits on the X chromosome are passed through families. In most mammalian species, females have two X sex chromosomes, while males have one X and one Y. A mutation on one X chromosome may be masked in females by a normal allele on the other X. In males, that same mutation is more likely to show because there is no second normal X to balance it. Traits caused by changes on the X chromosome are called X-linked traits. Color blindness is a well-studied example.

x-inactivation

Barr Bodies and X-Chromosome Balance

Barr bodies and X-chromosome balance help explain how female mammalian cells control gene activity from the X chromosome. The human X chromosome carries far more genes than the Y chromosome. Because males usually have one X chromosome and females have two, females would make twice as many of some proteins without a control system. To prevent that imbalance, female mammalian cells inactivate nearly all the genes on one X chromosome during early embryonic development. The inactive X condenses...

non-nuclear inheritance

Maternal DNA in Mitochondria and Chloroplasts

Maternal DNA in mitochondria and chloroplasts explains how some genes are inherited outside the nucleus. Most DNA is in the nucleus, but mitochondria and chloroplasts in the cell cytoplasm also carry their own DNA and can copy it independently of nuclear DNA. Mitochondria are found in both plant and animal cells. They are called the powerhouses of eukaryotic cells because they break down glucose to make energy for cellular activity. Mitochondrial DNA has about 37 genes, and many help with...

chromosomal theory of inheritance

How Genes Map to Chromosomes

Genes map to chromosomes, and this idea explains how Mendel’s inheritance patterns work. Gregor Mendel published his pea plant breeding results in 1866. He showed that physical traits follow predictable patterns. At the time, scientists did not yet know that genes existed. Mendel used the word "factors" for the hereditary units he studied. The details behind Mendel’s laws of segregation and independent assortment were still unknown for many years. In the late 1800s, better microscopes and...

key terms and concepts

Learn how X-linked and Y-linked mutations affect inheritance, with examples including Fragile X syndrome, Y-chromosome infertility, color blindness, and hemophilia.

X- and Y-Linked Disorder Patterns | JoVE K12

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JoVE Core 시리즈는 생물학의 주요 개념을 설명하는 300개가 넘는 간결하고 이해하기 쉬운 애니메이션 비디오 강의와 오늘날 실험실에서 수행된 실제 연구 실험을 보여주는 150개가 넘는 과학자 활동 비디오를 통해 생물학에 활기를 불어 넣습니다.

Next Generation Science Standards

High School

heredity-inheritance-and-variation-of-traits

Heredity: Inheritance and Variation of Traits

HS-LS3-1

new-york-state-science-learning-standards

New York State Science Learning Standards

Inheritance and Variation of Traits

HS-LS3-1.

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LS.10.b

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X- and Y-Linked Disorder Patterns

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