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Maternal > M1: Genetics & Genetic Counseling > Flashcards

M1: Genetics & Genetic Counseling Flashcards

1
Q

Study which deals of science in genes, hereditary and its variations in living organisms.

A

Genetics

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2
Q

Father of Genetics

A

Gregor Mendel

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3
Q

Coined the term “genetics”

A

William Bateson

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4
Q

Where can you find the Gene?

A

Cell-Nucleus-Chromosome- DNA- Gene (Segment of DNA)

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5
Q

How many cell human body contained?

A

100trillion cells.

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6
Q

There is a Nucleus inside each human cell, Except?

A

Red Blood Cells

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7
Q

Each nucleus contains ___________ arranged in 23 pairs.

A

Chromosomes

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8
Q

The chromosomes are filled with tightly coiled strands of?

A

DNA

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9
Q

Genes are segments of DNA contain instruction of make protein.

A

The blocks of life.

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10
Q

The complete copy of genetic material in a
organism (About 50,000 to 100,000)

A

Genome

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11
Q

A normal genome is abbreviated as

A

46XX & 46XY

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12
Q

If a chromosomal aberration exists, it is
listed after the?

A

sex chromosome pattern

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13
Q

Extra chromosome of 21,
abbreviate as 47XX21 or 47XY21.

A

Down Syndrome

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14
Q

The person’s outward appearance.

A

Phenotype

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15
Q

The person’s actual gene composition.

A

Genotype

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16
Q

A person who has two like genes for a trait on two like chromosomes.

A

Homozygous

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17
Q

A healthy gene from the mother and an
unhealthy gene from the father, or vice versa.

A

Heterozygous

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18
Q

Can be passed from one generation to the next.

A

INHERITED OR
GENETIC
DISORDERS

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19
Q

Is the schematic arrangements of the
chromosomes within a cell to demonstrate their
numbers and morphology.

A

Karyotype

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20
Q

Disease derived from parents.

A

Hereditary

21
Q

Transmitted in the gametes through generations.

A

FAMILIAL

22
Q

Disease present at birth (not always genetically
determined)

A

CONGENITAL

23
Q

In humans, each cell contains?

A

46 chromosomes (22 pairs of
autosomes and 1 pair of sex chromosomes).

24
Q

Each carry only half of the chromosome
number or 23 chromosomes.

A

Spermatozoa and ova

25
Q

Two like genes

A

(alleles)

26
Q

Parents with the genetic disorder tend to feel _______ when they come to know that they might have
passed on a condition to a child.

A

Guilt

27
Q

The Guilt leads to __________.

A

Depression

28
Q

When the defective gene is found on an
autosome, mode of inheritance is staid to be __________.

A

Autosomal inheritance.

29
Q

If it is on the sex chromosomes,

A

Sex-
linked inheritance.

30
Q

The gene that overshadows the other.

A

DOMINANT
GENE

31
Q

The gene that is overshadowed by dominant gene.

A

RECESSIVE
ONE

32
Q

FOUR PATTERNS OF INHERITANCE FOR MENDELIAN DISORDERS

A

-Autosomal dominant
-Autosomal recessive
-X-linked dominant
-X-linked recessive

33
Q

These genes are located on autosomes.

A

LOCATION OF MUTANT
GENE

34
Q

REQUIRED NUMBER OF
DEFECTIVE GENES

A

Only one copy of the mutant
(abnormal)gene is required for effects.

35
Q

Mutant gene is found on one of the
autosomal chromosomes. Hence, both
males and females are equally affected.

A

SEX AFFECTED

36
Q

Every affected individual has an affected
parent.

A

PATTERN OF
INHERITANCE

37
Q

When an individual has one mutated gene and one
normal gene, the heterozygous state is called?

A

CARRIER

38
Q

Appears to occur from multiple gene
combinations possibly combined with
environmental factors.

A

MULTIFACTORIAL
(POLYGENIC)
INHERITANCE

39
Q

Occur when a change in one gene causes a
disease. Examples include cystic fibrosis, sickle cell anemia, and hemophilia.

A

SINGLE GENE
DISORDERS

40
Q

Occur where there are missing or extra
chromosomes, or pieces of chromosomes.

A

CHROMOSOMAL
ABNORMALITIES

41
Q

Are caused by a combination of genetic
predispositions and environmental factors,
which makes it harder to predict who may be
at risk.

A

MULTIFACTORIAL/
COMPLEX
DISORDERS

42
Q

Occur when the baby is exposed to substances
during pregnancy that cause abnormalities,
otherwise known as “teratogens.” Babies are
very sensitive in the first trimester when all of
the organs are developing.

A

TERATOGENIC
DISORDERS

43
Q

A blood test that tries to determine if either
parent carries a genetic change for inherited
disorders that could be passed on to the baby,
can be performed on a saliva sample.

A

CARRIER
SCREENING

44
Q

A series of first and second-trimester screens
that use blood samples from the mother as well
as ultrasounds to check the baby’s risk of having
certain common genetic disorders.

A

PRENATAL
GENETIC
SCREENS

45
Q

A blood test that checks DNA from the placenta
that is found in the mother’s blood.

A

NONINVASIVE
PRENATAL
TESTING (NIPT) /
CELL-FREE DNA

46
Q

Tests a sample of tissue taken from the placenta
in the first trimester.

A

CHORIONIC
VILLUS
SAMPLING

47
Q

Tests a sample of the amniotic fluid taken from the womb in the second trimester.

A

AMNIOCENTESIS

48
Q

This is usually done when amniocentesis or chorionic villus
sampling is not possible.

A

FETAL BLOOD SAMPLING / PERCUTANEOUS UMBILICAL BLOOD
SAMPLING (PUBS)

Maternal (1 decks)

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