human genetics 1 Flashcards

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1
Q

developmental psychology

A

Developmental psychology: the study of how people’s perceptions and interactions with the world change and stay the same over time. Occurs across the entire lifespan, developmental experiences can be unique to certain periods of time throughout the lifespan.

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2
Q

phenotype

A

the observable properties of an organism produced by a genotype and environmental influences. Hair color, short/tall, lung capacity, skin tone, executive function abilities, psychiatric function.

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3
Q

genetic structures

A

the human body contains 100 trillion cells
- there is a nucleus inside each human cell (except red blood cells)
- each nucleus contains 46 chromosomes arranged in 23 pairs
- one chromosome in every pair is each parent
- these chromosomes are filled with tightly coiled

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4
Q

genes

A

segment of DNA that contains instructions to maintain proteins-the building blocks of life

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5
Q

chromosomes - facts

A
  • Most of our cells contain 46 chromsomes
  • the 46 chromosomes are actually 23 pairs
  • in each pair you receive one chromosome from mum and one from dad
  • each pair carries genes of the same type, these pairs match in size and function
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6
Q

gamates

A

sex cell. sperm from male and ova from female

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7
Q

karotype

A

description of the chromosomal content of a cell. the autosomes (non sex chromosomes) are labelled 1-22 on the karyotype.

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8
Q

variations in Karotype

A

46 XY- bio male
46- XX- bio female
47, XY + 21 and 47, XX +21= down syndrome
47, XXY= klinefelter syndrome
45, X= turener syndrome
47, XXY= XYY syndrome

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8
Q

Klinefelter syndrome

A

XXY condition can affect development in 3 ways:
- physical development: weak muscles, reduced strength, lagging
language development: between 25 and 85% of XXY males have some language difficulties
social: XXY males tend to be quieter compared to normal males

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8
Q

chromosomes- description

A

a chromosome carries the genetic information of the body
- information is a linear sequence
- chromosomes are made up of chromatin. this consititutes nucleic acids (DNA and RNA) and proteins (histones and non-histones)
- chromosomes are only visble during cell division processes, called mitosis and meiosis.

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8
Q

Deoxyribonucleic acid

A
  • Adenine and Thymine
  • Cytosine and Guamine
    this complementary base pairing is fundamental
  • 2 nucleotides held together by hydrogen bonds between the bases in opposing strands.
  • 5 prime end and 3 prime end
    base, 2-deoxyribose, phosphate group, nucleotide= base + sugar + prosphate)
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9
Q

gene

A

defined as any portion of chrosomal material that potentially lasts for enough generations to see unit of natural selection

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9
Q

gene characteristics

A
  • each gene has one or more specific effects upon the phenotype of the organism
  • a gene can recombine with another gene, can mutate in different forms
  • they are expressed differently in different points in life
  • can only infleunce development when turned on and expressed
  • for the DNA to impact information it must be transcribed
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10
Q

condons

A

groups of three bases of mRNA serially code for each amino acid
- these groups of 3 bases= condons
- there are potentially 64 possible condons but in nature only 20 different amino acids

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11
Q

proteins

A

proteins are the end product of gene expression. protein types= enzymes, Harmoglobin, Insulin, Collagen, Keratein, Histones, Actin and myosin, Immunoglobulins

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12
Q

Allels

A

about 1/3 of human genes have two or more different forms called alleles
- one of two or more forms of a gene, the alleles of a given gene influence the same trait or characteristic.
- a given gene may have multiple different allels, but only two alleles are present at the gene’s locus in person
-

13
Q

gene expression

A

the dominant allele is the form of the gene that is expressed if present
the recessive allele is expressed if a dominant allele is absent

14
Q

mutations

A
  • mutation is the process of change in the sequence of DnA
  • source of genetic variation and the basis of natural selection
  • they can be natural or result of external factors
    Base substitutes, deletions of DNA, insertions of DNA, whole or partial chromosomal abnormalities.