Genetics

Question 1

DYSPLASIA:

Answer 1

congenital abnormal or defective development of tissue or organ

Question 2

Recessive

Answer 2

Two copies of the gene is necessary for the condition

Question 3

Chromosomes are made up of _______ that code for traits.

Answer 3

genes

Question 4

Mixed up pieces

Answer 4

translocations

Question 5

The remaining _____ include all the other forms of inheritance.

Answer 5

15%

Question 6

30-40% of hereditary hearing loss is

Answer 6

syndromic

Question 7

Multifactorial

Answer 7

Inheritance controlled by many genes with small additive effects (polygenic) plus the effects of the environment.

Question 8

Gene:

Answer 8

a section of DNA with the coded instruction for the production of a protein that is essential for the growth

Question 9

Locus

Answer 9

the site of the gene on a chromosome.

Question 10

In a majority _______ of genetic cases, hearing loss is an isolated finding (non syndromic)

Answer 10

(60-70%)

Question 11

All the mitochondrial DNA are in the ________ not nucleus.

Answer 11

cell cytoplasm

Question 12

Phenotype:

Answer 12

• the trait produced by a single gene or several genes;

- the total of all observable features of an individual

Question 13

A gene is found at a specific location or locus on a

____________.

Answer 13

chromosome.

Question 14

About ________ the cases of congenital HL/deafness are due to non-genetic factors.

Answer 14

half (40-50%)

Question 15

Karotype:

Answer 15

pattern of all chromosomes laid out, a photographic record

Question 16

Mixed up pieces

Answer 16

translocations

Question 17

Genetics:

Answer 17

The study of heredity and how traits are passed on through generations.

Question 18

Genome/genotype:

Answer 18

the total genetic make-up of a specific organism.

Question 19

Too few chromosomes

Answer 19

monsomy

Question 20

Approximately _____ is inherited in a an autosomal recessive pattern

Answer 20

70%

Question 21

The 23 pairs consist of _______ pair of sex chromosomes

Answer 21

one

Question 22

Most human cells contain _________ each which contains a small chromosome with a small number of genes.

Answer 22

several hundred mitochondria

Question 23

Syndrome:

Answer 23

a collection of associated abnormalities and symptoms.

Question 24

There are _______ known genetic causes involving hearing loss.

Answer 24

over 400

Question 25

Too few chromosomes

Answer 25

monosomy

Question 26

____ acts like the letters, _____ are like sentences, and __________ are like chapters in a book.

Answer 26

1. DNA 2. genes 3 chromosomes

Question 27

Congenital deafness/profound hearing loss occurs in approximately _________________.

Answer 27

1 out of every 1000 births.

Question 28

About ________ of cases of congenital HL/deafness are due to genetic factors.

Answer 28

half (50-60%)

Question 29

Pairs of autosomes are called ___________.

Answer 29

homologous chromosomes.

Question 30

Dominant

Answer 30

Only one copy of the gene is necessary for the condition

Question 31

Too many chromosomes:

Answer 31

trisomy

Question 32

Penetrance:

Answer 32

the REGULARITY which which an inherited trait is manifested in the person who carries the gene.

Question 33

The other 22 pairs are referred to as _________.

Answer 33

autosomes

Question 34

Polygenic

Answer 34

Large number of genetic factors, each making only a small contribution to the final phenotype

Question 35

Each person has ______ chromosomes packaged in every cell of the body

Answer 35

46

Question 36

Approximately _____ of genetic HL is inherited in an autosomal dominant pattern.

Answer 36

15%