... 45 s; then 50 cycles of 95°C for 15 s, 58°C for 15 s, and 72°C for 30 s and
finished with 72°C for 10 minutes to complete the extension reaction.
Restriction digest of the PCR product was carried out using BsrG1 at 37°C for
PCR to amplify a 132bp region of exon 8 containing the mutation ...
30. genetic disorders 31. pedigree 32. Punnett Square
... testing for diseases or conditions in a fetus or embryo before it is born, used to
detect birth defects such as Down syndrome, chromosome abnormalities,
genetic diseases and other conditions, such as spina bifida, Tay Sachs
disease, sickle cell anemia, and cystic fibrosis. Screening can also determi ...
... Biology 6C
... • Thermus aquaticus (which lives in hot springs)
provides DNA polymerase enzyme for PCR
• Escherichia coli (which lives in our guts) provides
“plasmids” (mini-chromosomes) used in cloning
• 100s of bacterial species provide “restriction
enzymes” that cut DNA at specific sequences of
bases (4 - 8 bas ...
Ch.03 Nature Nurture
... E.g. Early sexual maturity in females can
result in being teased and rejected by
classmates (Larger breasts)
DNA and Chromosomes
... What is the relationship between DNA, chromosomes, and any organism?
Drag and drop the descriptive phrase to the correct column, thereby helping us to describe the relationships
between these important components of inheritance.
Dr . Muhammad Rafique Assist. Prof. Paediatrics College of
... F/Hx. of genetic disease, Dx. by biochemical or
• Parental request for sex determination because
of F/Hx. of X-linked disorder.
• Maternal blood sample show chromosomal abn.
• As a part of work up for fetal anomalies by USG.
PCR Study Questions
... 3. DNA strands can come apart and go back together. Why is this important?
2.5.4. DNA Revision Qs
... 3 Say if the following variations are inherited or acquired.
(a) freckles _____________________________________
(b) the production of an enzyme _____________________________________
(c) the ability to play a musical instrument _____________________________________
(d) the ability to form a blood clo ...
Worksheet for 4/16
... A. Enzymes that recognize and subsequently degrade foreign DNA
B. The pieces of DNA produced by restriction endonucleases
C. An enzyme important in splicing genes into plasmids and chromosomes
D. A short stretch of DNA of a known sequence that will base-pair with a
E. A piece ...
So You Think
... ________________ 3. DNA replication (copying) happens during this
Lctures Clinical genetics3
... Because of the miscarriage and fetal damage risks associated with amniocentesis and
CVS procedures, many women prefer to first undergo screening so they can find out if
the fetus' risk of birth defects is high enough to justify the risks of invasive testing. Since
screening tests yield a risk score ...
... Teenage Mothers
May suffer from poverty and prenatal care
Children may exhibit learning and behavior
problems at schools
Both preterm and low birth weight babies were
twice as common in preteen mothers
... This is the process of copying DNA to RNA.
The process of nuclear division in cells that produces daughter cells that are
genetically identical to each other and to the parent cell.
Chapter 12 DNA Analysis Checkpoint Answers In the nucleus of the
... 4. The Human Genome Project is a unified effort to
identify and determine the sequence of all genes
found on the human chromosome.
5. The nucleus
6. Adenine, guanine, cytosine, thymine
7. The phosphate groups give DNA its acidic properties.
8. Blood, semen, saliva, hair follicular tissue, bone
9. Re ...
... 1) DNA – made of subunits known as
nucleotides – made of:
• Shape: Double Helix
• Found in the nucleus; chromosomes
Cell-free fetal DNA
Cell-free fetal DNA (cffDNA) is fetal DNA circulating freely in the maternal blood stream. It can be sampled by venipuncture on the mother. Analysis of cffDNA provides a method of non-invasive prenatal diagnosis.cffDNA originates from the trophoblasts making up the placenta. It is estimated that 2-6% of the DNA in the maternal blood is fetal in origin. The fetal DNA is fragmented and makes its way into the maternal bloodstream via shedding of the placental microparticles into the maternal bloodstream (figure 1). Studies have shown that cffDNA can first be observed as early as 7 weeks gestation, and the amount of cffDNA increases as the pregnancy progresses. cffDNA diminishes quickly after the birth of the baby, so that it is no longer detectable in the maternal blood approximately 2 hours after birth. cffDNA is significantly smaller than the maternal DNA in the bloodstream, with fragments approximately 200bp in size. Many protocols to extract the fetal DNA from the maternal plasma use its size to distinguish it from the maternal DNA.Studies have looked at, and some even optimized, protocols for testing non-compatible RhD factors, sex determination for X-linked genetic disorders and testing for single gene disorders. Current studies are now looking at determining aneuploidies in the developing fetus. These protocols can be done earlier than the current prenatal testing methods, and have no risk of spontaneous abortion, unlike current prenatal testing methods. Non-invasive prenatal diagnosis (NIPD) has been implemented in the UK and parts of the US; it has clear benefits above the standard tests of chorionic villi sample (CVS) and amniocentesis which have procedure-related miscarriage risks of about 1 in 100 pregnancies and 1 in 200 pregnancies, respectively.As a method of prenatal diagnosis, cell-free fetal DNA techniques share the same ethical and practical issues, such as the possibility of prenatal sex discernment and sex selection.