Question

Помогите пожалуста Які хвороби передаються з статевими хромосомами? Які їх особливості? 3.2 Які хвороби пов'язані із зміною числа хромосом? 3.3 Причиною яких хвороб є генні мутації?

Answer 1

3.1Приклади таких генетичних хвороб включають синдром Дауна (додаткова хромосома 21), синдром Шерешевського-Тернера (45X0) і синдром Клайнфельтера (чоловік з 2 X-хромосомами).
3.2. Хромосомні хвороби – спадкові хвороби, які обумовлені геномними (зміна числа хромосом) і хромосомними (зміна структури хромосом) мутаціями. Хромосомні спадкові захворювання зумовлені зміною кількості хромосом або їхньої структури, що видно в світловому мікроскопі.
3.3. Всім відомі хвороба Альцгеймера, діабет, ожиріння і артрит. Крім того, багато типів раку викликані кількома мутаціями. Хромосоми це макромолекула ДНК , що складається з генів. Хромосоми знаходяться в ядрі клітини.

Answer 2

Diseases transmitted by sex chromosomes and their characteristics:

Some diseases are caused by abnormalities or mutations in the sex chromosomes. These diseases are typically inherited in a sex-linked manner, meaning they are more common in one sex than the other. Here are some examples:

1. Turner syndrome (45,X): Turner syndrome is a genetic disorder that affects females. It occurs when one of the sex chromosomes is missing or partially missing. The most common form of Turner syndrome is characterized by a complete or partial absence of one X chromosome (45,X). Symptoms may include short stature, infertility, heart defects, and certain physical features [[1]].

2. Klinefelter syndrome (47,XXY): Klinefelter syndrome is a genetic condition that affects males. It occurs when a male has an extra X chromosome (47,XXY) in each cell. This condition can cause infertility, reduced testosterone production, learning disabilities, and physical characteristics such as tall stature and enlarged breasts [[2]].

3. Triple X syndrome (47,XXX): Triple X syndrome is a genetic condition that affects females. It occurs when females have an extra X chromosome (47,XXX) in each cell. Many individuals with triple X syndrome have no noticeable symptoms or only mild symptoms. However, some may experience learning difficulties, delayed speech and language development, and behavioral and emotional challenges [[3]].

4. XYY syndrome (47,XYY): XYY syndrome is a genetic condition that affects males. It occurs when males have an extra Y chromosome (47,XYY) in each cell. Most males with XYY syndrome have no noticeable symptoms or only mild symptoms. However, some may experience learning difficulties, delayed speech and language development, and behavioral and emotional challenges [[4]].

Diseases associated with changes in the number of chromosomes:

Changes in the number of chromosomes can lead to various genetic disorders. Here are some examples:

1. Down syndrome (Trisomy 21): Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. It is characterized by intellectual disability, distinct facial features, and certain medical conditions such as heart defects and gastrointestinal issues [[5]].

2. Edwards syndrome (Trisomy 18): Edwards syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 18. It is associated with severe intellectual disability, physical abnormalities, and organ defects. Most individuals with Edwards syndrome have a short lifespan [[6]].

3. Patau syndrome (Trisomy 13): Patau syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 13. It is associated with severe intellectual disability, physical abnormalities, and organ defects. Most individuals with Patau syndrome have a short lifespan [[7]].

Causes of genetic mutations and resulting diseases:

Genetic mutations can occur spontaneously or be inherited from parents. They can lead to various diseases and disorders. Here are some causes of genetic mutations:

1. Inherited mutations: Some genetic mutations can be passed down from parents to their children. These mutations can be present in the germ cells (sperm or egg) or occur during early development. Inherited mutations can increase the risk of certain genetic disorders, such as cystic fibrosis or Huntington's disease [[8]].

2. Environmental factors: Exposure to certain environmental factors, such as radiation, chemicals, or certain medications, can increase the risk of genetic mutations. These mutations can lead to various diseases, including cancer [[9]].

3. Spontaneous mutations: Spontaneous mutations can occur randomly during DNA replication or as a result of errors in DNA repair mechanisms. These mutations can lead to genetic disorders, such as Down syndrome or certain types of cancer [[10]].

It's important to note that this is not an exhaustive list of diseases associated with sex chromosomes or changes in chromosome number, nor is it an exhaustive list of causes of genetic mutations. Genetic disorders can have complex causes and manifestations, and further research or consultation with a healthcare professional is recommended for specific cases.