Genetic Variation and Polymorphism in Theme 5 Modules 1-2

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What is the genetic condition characterized by having 3 X chromosomes?

Triple X Syndrome

What genetic event leads to Down syndrome?

Trisomy 21

What procedure involves taking amniotic fluid to conduct biochemical tests for genetic screening?

Amniocentesis

In which genetic condition do males have an extra X chromosome, resulting in small testes and a feminine body contour?

Klinefelter Syndrome

Aneuploidy refers to a condition involving:

Too many or too few chromosomes

How does the SBE1 gene contribute to pea development?

Converts sugar into starch

What term describes the failure of homologous chromosomes to separate in meiosis I or sister chromatids in meiosis II?

Nondisjunction

In Mendelian genetics, what did scientists in the 1800s believe about how genetic material from parents combined?

It mixes together in a blending hypothesis

What is the term used to describe the orderly display of an individual's chromosomes?

Karyotype

Which law of Mendelian genetics explains how two alleles of a gene separate into different gametes during gamete formation?

Law of segregation

During independent assortment in genetics, which chromosomes segregate independently if they are close together?

Linked genes on the same chromosome

In a monohybrid cross of homozygous plants for both seed color and seed texture traits, what would be the phenotype of the F1 offspring?

All yellow and smooth peas

In meiosis, what is the function of the synaptonemal complex?

Holds homologous chromosomes together during synapsis

What is a characteristic of single nucleotide polymorphisms (SNPs) mentioned in the text?

Serve as DNA markers outside genes

How does sickle cell anemia provide a selective advantage in malaria areas?

Through resistance to malaria infection

What is the role of tandem repeats in genetic variation?

Identify unique individuals through VNTRs

Which technique is used to detect variations in copy number variations (CNVs)?

DNA microarray analysis

What causes sickle cell anemia at the molecular level?

Single nucleotide substitution in the Beta-globin gene

During which phase of meiosis do homologous chromosomes separate to opposite poles?

Anaphase I

What is the significance of copy number variations (CNVs) in genetic analysis?

Identify variations in DNA sequence length

How do single nucleotide polymorphisms (SNPs) contribute to haplotype grouping?

By being shared among individuals within haplotype groups

What distinguishes the structure of HbS protein in individuals with sickle cell trait?

It has a valine substitution due to a single nucleotide mutation.

Explore the concepts of genetic variation, non-protein coding regions, tandem repeats, and polymorphism in Module 1 of Theme 5. Learn about the different forms of alleles and chromosomal variations.

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