Genetics Flashcards

1
Q

DYSPLASIA:

A

congenital abnormal or defective development of tissue or organ

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2
Q

Recessive

A

Two copies of the gene is necessary for the condition

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3
Q

Chromosomes are made up of _______ that code for traits.

A

genes

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4
Q

Mixed up pieces

A

translocations

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5
Q

The remaining _____ include all the other forms of inheritance.

A

15%

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6
Q

30-40% of hereditary hearing loss is

A

syndromic

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7
Q

Multifactorial

A

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

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8
Q

Gene:

A

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

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9
Q

Locus

A

the site of the gene on a chromosome.

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10
Q

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

A

(60-70%)

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11
Q

All the mitochondrial DNA are in the ________ not nucleus.

A

cell cytoplasm

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12
Q

Phenotype:

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

- the total of all observable features of an individual

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13
Q

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

____________.

A

chromosome.

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14
Q

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

A

half (40-50%)

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15
Q

Karotype:

A

pattern of all chromosomes laid out, a photographic record

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16
Q

Mixed up pieces

A

translocations

17
Q

Genetics:

A

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

18
Q

Genome/genotype:

A

the total genetic make-up of a specific organism.

19
Q

Too few chromosomes

A

monsomy

20
Q

Approximately _____ is inherited in a an autosomal recessive pattern

A

70%

21
Q

The 23 pairs consist of _______ pair of sex chromosomes

A

one

22
Q

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

A

several hundred mitochondria

23
Q

Syndrome:

A

a collection of associated abnormalities and symptoms.

24
Q

There are _______ known genetic causes involving hearing loss.

A

over 400

25
Q

Too few chromosomes

A

monosomy

26
Q

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

A
  1. DNA
  2. genes
    3 chromosomes
27
Q

Congenital deafness/profound hearing loss occurs in approximately _________________.

A

1 out of every 1000 births.

28
Q

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

A

half (50-60%)

29
Q

Pairs of autosomes are called ___________.

A

homologous chromosomes.

30
Q

Dominant

A

Only one copy of the gene is necessary for the condition

31
Q

Too many chromosomes:

A

trisomy

32
Q

Penetrance:

A

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

33
Q

The other 22 pairs are referred to as _________.

A

autosomes

34
Q

Polygenic

A

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

35
Q

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

A

46

36
Q

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

A

15%