Guide to human genome

What are the proteins associated with the DNA strand?

His tones

What is the structure that DNA is wound into called?

Chromosomes

When does DNA replication happen?

S phase

Can DNA be damaged during replication?

Yes

At meiosis, One diploid parent cell becomes?

4 haploid daughter cells

What is cross over?

genes segregate independently, even if on the same chromosome

When does corps over occur?

In gamete formation

Differences between RNA and DNA?

Single stranded

Ribose backbone not deoxyribose

Uracil is used instead of Thymine

The amount of protein produced is determined by?

rate of transcription

Rate of splicing to mRNA

Half life of mRNA

Rate of processing of polypeptide

DNA is transcribed to become?

Pre mRNA

pre mRNA is spliced to become?

. mRNA

, mRNA is translated to?

Protein

What is a pathogenic variant?

A gene variant that causes disease

What is penetrance?

How likely it is to cause disease

What are some sequence changes in the DNA between genes?

Single Nucleotide Polymorphisms (SNPs)

Larger deletions or duplications

What is a benign variant?

Any variation that does not cause a disease in its own right. However, it may predispose to a common disease