Human Inheritance: 1. What is a karyotype? How can it be useful when looking for
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Question
Human Inheritance: 1. What is a karyotype? How can it be useful when looking for genetic disorders? 2. What are Autosomes and sex chromosomes? 3. What is a pedigree? What information can you learn from one? 4. Name some common genetic disorders caused by abnormal chromosome number? Name the type of inheritance that controls each of these common genetic disorders. a. Cystic fibrosis b. Hemophilia c. Sickle cell anemi d. Huntington's disease Mutations in which types of cells are passed on to future generations? Are recessive or dominant genetic disorders more common in the human population? Understand how X-linked genes are inherited. 5. 6. 7. 8.Explanation / Answer
1. KARYOTYPE: Karyotype is the number and appearance of chromosomes in the nucleus of eukaryotic cells.
It also refers to a complete set of chromosomes in a species or in an individual organism and iit also refersfor a test that detects this complement or measures the number.
A karyotype in genetics refers to an organized profile of a person's chromosomes. Two chromosomes specify sex, XX for female and XY for male. The rest are arranged in pairs, numbered 1 through 22, from largest to smallest.
Karyotype analysis can reveal abnormalities, such as missing chromosomes, extra chromosomes, deletions, duplications, and translocations. These abnormalities can cause genetic disorders including Down syndrome, turner syndrome, Klinefeltersyndrome, and fragile X syndrome.
2. AUTOSOMES :The chromosomes other than Sex chromosomes (allosomes) are called Autosomes.
Sex chromosomes : Allosomes. a set of chromosomes usually determines the gender Ex Male allosomes are XY and Female allosomes are XX.
3.Pedigree : a record of descent of an anilmal or species OR an ancestry or lineage of a person or family. it is used by genealogists to study the human family lines OR to study the selective breeding of animals.
4. GENETIC DISORDERS due to abnormal chromosome number:
a. down syndrome (the chromosomes are 47 instead of 46 due to copying of chromosome no.21, hence this condition is also called as trisomy 21) b. Patau's syndrome c. Edward's syndrome, d.Klinefelter syndrome e. Turner syndrome.
5. cystic fibrosis------autosomal recessive inheritance pattern, Hemophilia ---X linked recessive , Sickel cell anaemia --- Autosomal recessive Huntington's disease ---- Autosomal dominant
6. Mutations in germ cells will pass on to next generations.
7. recessive genetic disorders are more common in human population.
8. Autosomal Most X-linked conditions are recessive.
a person with two X chromosomes (females), both copies of a gene (i.e., one on each X chromosome) must have a change or mutation whereas in a person with one X chromosome (males), only one copy of a gene must have a mutation.
A female with a mutation in one copy of a gene on the X chromosome is said to be a “carrier” for an X-linked condition. A male with a mutation in a gene on the X chromosome is typically affected with the condition. Because females have two copies of the X chromosome and males have only one X chromosome, X-linked recessive diseases are more common among males than females.
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