2.1 - 2.2 Overview

This is just a fresh overview for my test! good luck!

Down Syndrome

nondisjunction; extra copy of chromosome 21 (trisomy 21); difficult to control protein growth; developmental disorder

Duchenne Muscular Dystrophy

sex-linked recessive single gene disorder; progressive muscular degeneration; absence of dystrophin that helps keep muscle cells in tact

Cystic Fibrosis

single gene recessive; affects the respiratory and digestive systems; defective gene on chromosome 7 which helps move salt in and out of cells

Huntington's Disease

single gene dominant; affects the ability to think, talk, and move; a mutation in the gene on chromosome 4 which directs the delivery of vesicles to the cell

Alzheimer's Disease

Multifactorial disorder; brain contains abnormal clumps of cellular debris, protein, and collapsed micro tubules caused by malfunctioning protein

Single Gene Disorder

changes/mutations of one gene; results in a protein that can no longer do its job; types include recessive, dominant, and sex-linked

Multifactorial Disorder

combines environmental factors and mutations in multiple genes; most common genetic disorders are multifactorial

Chromosomal Disorder

missing/extra genes, breaks, deletions, or rejoinings of chromosomes; Karyotypes important in diagnosis

Mitochondrial Disorder

mutations in the non-chromosomal DNA of the mitochondria; passed from mother to all children; rare form of genetic disorder

Amniocentesis

A technique for determining genetic abnormalities in a fetus by the presence of certain chemicals or defective fetal cells in the amniotic fluid, obtained by aspiration from a needle inserted into the uterus

Anneal (Step 2)

65 C. To be capable of combining with complementary nucleic acid by a process of heating and cooling

Chorionic villus sampling (CVS)

A technique for diagnosing genetic and congenital defects in a fetus by removing and analyzing a sample of the fetal portion of the placenta

Denaturation (step 1)

(94-98 C)In DNA, the separation of the two strands of the double helix.

Gene

A discrete unit of hereditary information consisting of a specific nucleotide sequence of DNA

Genetic counseling

A process of communication that deals with the occurrence or risk that a genetic disorder will occur in a family

genome

The complement of an organism's genes; an organisms genetic material

Genotype

The genetic makeup of an organism

Karyotype

A display of the chromosome pairs of a cell arranged by size and shape

Phenotype

The physical and physiological traits of an organism

Polymerase chain reaction (PCR)

A technique that involves copying short pieces of DNA and then making millions of copies in a short period of time

Preimplantation Genetic Diagnosis (PGD)

In assisted reproductive technology, the determination of genetic abnormalities in the embryo before it is transferred to the uterus

Primer

A short piece of DNA or RNA that is complementary to a section of template strand and acts as an attachment and starting point for the synthesis strand during DNA replication

Taq polymerase

A DNA synthesis enzyme that can withstand the high temperatures of PCR

Single nucleotide polymorphism (SNP)

One base-pair variation in the genome sequence

Restriction enzyme

A degradative enzyme that recognizes specific nucleotide sequences and cuts up DNA.

Adeno-associated virus

Small non pathogen virus that requires a helper virus to replicate

Liposome

Spherical, artificial vesicles composed of 1 or more phospholipid bilayers enclosing on aqueous core

Adenovirus

group of commin viruses that cause mild to serve infection to the resporitoy tract and intestines

Retrovirus

RNA virus that replicates by inserting a DNA copy genome into the host cells DNA

Herpes virus

Highly contagious infection that causes painful sores, blisters through skin to skin contact or oral

Lentivirus

Single-stranded RNA virus that are able to infect both dividing and non dividing cells

Extendtion

• step 3

• Process: Temperature raised to 72°C.

• Purpose: Synthesize a new DNA strand complementary to the template.

• Taq polymerase: Activated at this temperature; adds DNA nucleotides (dNTPs) to the primer

In vitro

refers to studies conducted in controlled, artificial environments like test tubes or Petri dishes.

In vivo

involves experiments within a whole living organism, such as animal testing or human clinical trials

Autosomal

involves genes on non-sex chromosomes (1–22), affecting males and females equally,

X-linked

inheritance involves genes on the X chromosome, causing distinct inheritance patterns based on sex

What role does Cas9 play in the CRISPR system?

Cas9 cutes specific DNA sequences targeted by a guide RNA (gRNA)

Edward’s syndrome ( or trisomy 18)

severe genetic disorder caused by an extra chromosome 18, leading to developmental delays, intellectual disability, and serious physical abnormalities.

Vector

A agent (Such as a plasmid or virus) that contains or carries modtified genetic material and can be used to introduce extra genes into the genome of an organism

Good characteristics of disease for gene therapy

• Do not have a current effective treatment

• Are single- gene disorders

• The affected gene is known

• Adding a functional copy of the affected gene will resolve issues

• Functional genes can be delivered to the affected tissue