Human Genetics

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47 Terms

1

Genome

All genetic information contained in a cell.

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2

Haploid cell

A cell that contains one complete set of chromosomes, approximately 3 billion base pairs.

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3

Gene

The basic physical and functional unit of heredity that encodes for a protein or other product.

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4

Karyotype

A picture of the chromosomes in an individual, arranged and classified.

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5

Sister chromatids

Identical copies of a chromosome, joined together at the centromere.

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6

Chromosomal abnormalities

Errors in chromosome number or structure which can result in genetic disorders.

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7

Polyploidy

A condition where a cell has extra whole sets of chromosomes.

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8

Aneuploidy

A condition of having an abnormal number of chromosomes, usually due to non-disjunction.

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9

Translocation

The transfer of a chromosome segment to a non-homologous chromosome.

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10

Mosaicism

A condition where two or more genetically different cell lines exist in a single individual. Comes form x-inactivation, or non-disjunction in mitosis somatic mutation

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11

Independent assortment

The process by which different genes independently separate from one another when reproductive cells develop.

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12

Meiosis

A type of cell division that reduces the chromosome number by half, resulting in the formation of gametes.

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13

Autosomal recessive inheritance

A pattern where two copies of an abnormal gene must be present for the disease or trait to develop.

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14

Barr bodies

Inactivated X chromosomes in females, typically one per female cell.

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15

X-linked inheritance

A pattern of inheritance in which a gene is located on the X chromosome.

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16

Mitochondrial inheritance

Genetic transmission through mitochondria, typically maternal, affecting all offspring.

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17

Gene flow

The transfer of genetic variation from one population to another.

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18

Microsatellites

Short, repetitive sequences of DNA that are highly variable and used as genetic markers.

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19

Acrocentric chromosomes

Centromere toward the end of the chromosomes. Includes 13, 14, 15, 21, and 22

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20

Mixoploidy

Two or more cell lineages mixed (mosaicism or chimerism)

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21

Reciprocal translocation

Nothing is lost or gained as long as the breakpoint doesn’t disrupt function. Produces 2 complete chromosomes, they just don’t look how they’re supposed to

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22

FiSH

Good for quick chromosome count and detection of known/suspected deletionsand duplications in specific regions.

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23

Microarray analysis

A way to measure the quantity of a given sequence of DNA in a sample. Used to detect full or partial aneuploidy. Doesn’t work on translocation

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24

Downs syndrome

Trisomy 21

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25

Edward syndrome

Trisomy 18, partial or mosaic form may be milder

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26

Turner syndrome

Monosomy X

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27

Klinefelter syndrome

XXY syndrome

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28

Translocation carrier

An individual who carrier a balanced chromosome translocation. Phenotypically normal, but have a high risk of miscarrying

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29

Inherited translocation

Translocation carriers may pass the balanced (or unbalanced) form of a translocation onto their offspring

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30

Autosomal reciprocal translocation

Exchange of segments between two non-homologous autosomal chromosomes. Balanced carriers are usually unaffected

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31

Robertsonian translocation

Fusion of the long arms of two acrocentric chromosomes, the short arms are lost

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32

Heterologous robertsonian

A robertsonian caused by the fusion of the q arms of two different acrocentric chromosomes

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33

Homologous robertsonian

A robertsonian caused by the fusion of the q arms of two copies of the same chromosome

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34

Autosomal recessive

Usually only one generation affected. Children of carriers at 25% risk, unaffected children have 66% chance of being a carrier. Includes cystic fibrosis and sickle cell anemia

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35

Autosomal dominant

Affects multiple successive generations. Children of affected individuals are at 50% risk. Includes Huntington’s disease and Treacher Collins

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36

X-linked

Multiple generations affected. Males more severely affected. All daughters of affected males will be carriers/affected. Includes hemophilia and red-green colorblindness

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37

X-linked mosaicism

Which X (Maternal or paternal copy) is chosed for inactivation in an XX embryo is determined randomly and independently by each cell of the embryo. Once a cell has chosen which X to inactivate, that X remains inactive in all its daughter cells. Mosaicism makes it so that women will dometimes express diseased X

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38

Y-linked

Only present in males, super rare. Includes spermatogenic failure

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39

Mitochondrial inheritance

All children of an affected female will be affected. Significant variation in severity, but tends to get worse with each generation. Includes mitochondrial myopathy

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40

Gonadal mosaicism

When the gamete population of an individual is mosaic for an allele. Can cause unaffected individual to have multiple children with an autosomal dominant condition

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41

Chimerism

Mosaicism tha tis the result of an absorbed twin, bone marrow transplants, or it happens in pregnant women

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42

Locus heterigeneuty

Same clinical phenotype from mutations at any one of several different loci

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43

Allelic heterogeneity

Different mutations at the same locus result in the same clinical phenotype

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44

Syndrome

A well-known pattern of anomalies beieved to have the same cause, often genetic/chromosomal but may be environmental. Ex: Achondroplasia (dwarfism)

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45

Sequence

A group of related anomalies believed to be caused by a single major anomaly that alters the development of other structures. Ex: Oligohydramnios sequence (potters sequence)

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46

Zellweger syndrome

Autosomal recessive disease caused by errors in peroxin genes (peroxisomes)

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47

Epidermis bullosa

Extreme skin fragility

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