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GBA Genetics > Gene Therapy, Gametogenesis, Prenatal genetic testing > Flashcards

Gene Therapy, Gametogenesis, Prenatal genetic testing Flashcards

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Biology 101 flashcards
1
Q

Aptamere:

A

Aptamere: RNA molecules that specifically bind to a small molecule or a protein – they are selected from a random pool.

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2
Q

How can we treat a disease with gene therapy?

A

Nucleic acid selection

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3
Q

Nucleic acid selection - DNA Methods Examples

A

Plasmid
Linear DNA (viral)
Artificial chromosome

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4
Q

Nucleic acid selection - RNA Methods Examples

A 
Antisense RNA
Ribozyme
Silencing RNA
microRNA (miRNA)
Aptamere
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5
Q

How to introduce the nucleic acid?

A

Selection of vector - Most commnly viral

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6
Q

Episomal:

A

Episomal: A segment of DNA that can exist and replicate either autonomously in the cytoplasm or as part of a chromosome, mainly found in bacteria.

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7
Q

What are examples of Viruses used in Gene therapy as vectors?

A

Adenovirus, AAV, Lentivirus

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8
Q

Spermatogonium and Oogonium:

What is the Chromosomal Content? (2n/n)

A

Spermatogonium and Oogonium are:

Diploids (2n)

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9
Q

Primary Spermatocyte and Oocyte :

What is the Chromosomal Content? (2n/n)

A

Primary Spermatocyte and Oocyte are:

Diploids (2n)

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10
Q

Secondary Spermatocyte and Oocyte :

What is the Chromosomal Content? (2n/n)

A

Secondary Spermatocyte and Oocyte are:

Haploids (n)

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11
Q

Spermatid and Ootid :

What is the Chromosomal Content? (2n/n)

A

Spermatid and Ootid are :

Haploids (n)

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12
Q

Spermatozoa and Ovum:

What is the Chromosomal Content? (2n/n)

A

Spermatozoa and Ovum are :

Haploids (n)

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13
Q

What is the name of the process that allows Spermatogonium and Oogonium to become Primary Spermatocyte and Oocyte?

A

Maturation

NOT MEIOSIS

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14
Q

What is the name of the process that allows Primary Spermatocyte and Oocyte to become Secondary Spermatocyte and Oocyte?

A

MEIOSIS I

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15
Q

What is the name of the process that allows Secondary Spermatocyte and Oocyte to become Spermatid and Ootid?

A

MEIOSIS II (Completed only in Fertilization)

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16
Q

What is the definition of Infertility:

A

Infertility: inability to conceive after 12 months. ~10% couple are infertile.

17
Q

Rare genetic causes of non obstructive azoospermia (low sperm count) – all account for <5% of infertility: (4)

A

− Kallmann syndrome
− Robertsonian translocations
− XX males (pseudohermaphroditism)
− Point mutations / CNV

18
Q

When is In Vitro Fertilization and Embryo Transfer (IVF + ET) indicated for patients?

A

Infertile female (+ healthy sperm)

19
Q

When is Intracellular Sperm Injection (ICSI) indicated for patients?

A

Infertile male with abnormal sperm

20
Q

Preimplantation Genetic Diagnosis (PGD):

A

Preimplantation Genetic Diagnosis (PGD):
Determine the genotype to avoid
transmission of genetic disease
(monogenic disease)

21
Q

Preimplantation Genetic Screening (PGS):

A

Preimplantation Genetic Screening (PGS):
Determine the karyotype to avoid
transmission of genetic disease
(numerical chromosomal aberrations)

22
Q

What are three main tissues for Tissues for Preimplantation Biopsy?

A

➢ Polar body – from egg stage
➢ Blastomere – from cleavage stage
➢ Trophectoderm – from blastocyst stage

23
Q

What is used for HLA Typing as a sample?

A

➢ Blastomere – from cleavage stage

➢ Trophectoderm – from blastocyst

24
Q

What is used for PGS and PGD as a sample?

A

➢ Polar body – from egg stage
➢ Blastomere – from cleavage stage
➢ Trophectoderm – from blastocyst

25
Q

What is the disadvantage of using Polar body for Preimplantation Biopsy?

A

Maternal only

26
Q

What is the disadvantage of using Blastomere for Preimplantation Biopsy?

A

Mosaicism is common

27
Q

What is the disadvantage of using Trophectoderm for Preimplantation Biopsy?

A

Not all embryos reach blastocyst stage the same day

28
Q

Clinical Indications for Using PGD/PGS:

A
  • Single gene defects (family history of inherited disorder)
  • Balanced translocations in one of the parents
  • Advanced maternal age (aneuploidy)
  • Repetitive IVF failure
  • Recurrent pregnancy loss
  • Embryo selection (HLA matching siblings)
29
Q

Molecular Genetic Techniques used in PGS:

A
  • Karyotyping with G-band
  • FISH
  • MLPA
  • aCGH
  • NGS (New Genome Sequencing)
  • QF-PCR (Quantitative Fluorescence)
30
Q

What is the gold standard for PGS Method of testing?

A

• Karyotyping with G-band

31
Q

array-Comparative Genomic Hybridization (aCGH): What is it?

A

A technique used to detect CNVs. Whole genome of two different fluorescent color labelled and hybridized to slide fixed healthy metaphase chromosomes. fluorescent fragments are bound to chromosomes depending on the number of copies rate of fluorescent signal should be equal (= 1)

32
Q

array-Comparative Genomic Hybridization (aCGH): What Does it mean if the signal is more than 1.2?

A

tested samples the genome fragments give a more intense signal - tested section of the genome has EXTRA copies

33
Q

array-Comparative Genomic Hybridization (aCGH): What Does it mean if the signal is less than 0.85?

A

tested samples of genome fragments signal decreased - the tested section of the genome indicates a DEFICIT.

34
Q

Non-invasive Fetal Trisomy (NIFTY) test:

A

from week 10th, Allow to check for trisomy and other chromosomal aberration of chromosome:
9, 13, 16, 18, 21, 22, X, Y

35
Q

Clinical use of aCGH:

A

• Disease focused arrays (DMD array)
– Haematological and cancer arrays
• Prenatal arrays
• Preimplantation arrays

36
Q

aCGH - Advantages compared to karyotyping:

A

– Easily noticeable differences

– Higher resolution (approx. 100 kb) than the resolution of banding techniques (5-10 Mb)

37
Q

aCGH - Advantages compared to FISH:

A

Not only specific, pre-selected regions can be examined

38
Q

aCGH - Disadvantage:

A

Contamination (in tumor samples are healthy cells as well).

GBA Genetics (16 decks)

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