• Study Resource
  • Explore Categories
    • Arts & Humanities
    • Business
    • Engineering & Technology
    • Foreign Language
    • History
    • Math
    • Science
    • Social Science

    Top subcategories

    • Advanced Math
    • Algebra
    • Basic Math
    • Calculus
    • Geometry
    • Linear Algebra
    • Pre-Algebra
    • Pre-Calculus
    • Statistics And Probability
    • Trigonometry
    • other →

    Top subcategories

    • Astronomy
    • Astrophysics
    • Biology
    • Chemistry
    • Earth Science
    • Environmental Science
    • Health Science
    • Physics
    • other →

    Top subcategories

    • Anthropology
    • Law
    • Political Science
    • Psychology
    • Sociology
    • other →

    Top subcategories

    • Accounting
    • Economics
    • Finance
    • Management
    • other →

    Top subcategories

    • Aerospace Engineering
    • Bioengineering
    • Chemical Engineering
    • Civil Engineering
    • Computer Science
    • Electrical Engineering
    • Industrial Engineering
    • Mechanical Engineering
    • Web Design
    • other →

    Top subcategories

    • Architecture
    • Communications
    • English
    • Gender Studies
    • Music
    • Performing Arts
    • Philosophy
    • Religious Studies
    • Writing
    • other →

    Top subcategories

    • Ancient History
    • European History
    • US History
    • World History
    • other →

    Top subcategories

    • Croatian
    • Czech
    • Finnish
    • Greek
    • Hindi
    • Japanese
    • Korean
    • Persian
    • Swedish
    • Turkish
    • other →
 
Profile Documents Logout
Upload
Slide_Handout_20_12
Slide_Handout_20_12

...   Source! ...
Prenatal suggestion of Pena-Shokeir I syndrome postnatally confirmed
Prenatal suggestion of Pena-Shokeir I syndrome postnatally confirmed

... hands and feet and retrognathia narrowed the list of possible diagnoses, suggesting the PSS I syndrome, however, it could not be an unequivocal in prenatal diagnosis. Pulmonary dysplasia is not observed in majority other of the syndromes with arthrogryposis, and thus it would focus prenatal differen ...
the 3
the 3

... A computer read-out of the gel generates a “false color” image where each color corresponds to a base. Then the intensities are translated into peaks that represent the sequence. ...
Topic 3 The chemistry of life
Topic 3 The chemistry of life

... 48. Helicase is the enzyme that breaks the hydrogen bonds to allow the unwinding. 49. The exposed bases of each strand are then paired with an available nucleotide by complementary base pairing. The result is two strands where only one was first present. 50. DNA polymerase is an enzyme that allows t ...
PART
PART

... three or more complete sets (homologs) of chromosomes, is most common in plants but animals cannot tolerate this type of chromosomal aberration. 4. Aneuploidy is the addition or deletion of a single chromosome. a. It is usually caused by failure of chromosomes to separate during meiosis (nondisjunct ...
Document
Document

... • products are fed into thin capillary tube • 10 to 300 µm in diameter and ~ 50 cm long • applied electric field of up to 1,200 V/cm • higher fields can be used with smaller cross sections due to the ability to remove heat more rapidly • tag DNA with tag to “light up” strands across gel • radioactiv ...
Photosynthesis - Mrs. Brenner's Biology
Photosynthesis - Mrs. Brenner's Biology

... • Genomics is the study of the genomes of humans and other organisms. • Sequencing the Bases  The Human Genome Project (HGP) produced a working draft of all the base pairs in all chromosomes.  Took 13 years to sequence three billion base pairs along the length of chromosomes. ...
2.7 Review - Peoria Public Schools
2.7 Review - Peoria Public Schools

... 48. Helicase is the enzyme that breaks the hydrogen bonds to allow the unwinding. 49. The exposed bases of each strand are then paired with an available nucleotide by complementary base pairing. The result is two strands where only one was first present. 50. DNA polymerase is an enzyme that allows t ...
10. Cody Mills - Hemophilia A
10. Cody Mills - Hemophilia A

... Penetrance and Expression  Penetrance is nearly universal in affected males and homozygous females  Varying levels of expressivity  Most severe usually diagnosed in first year  Medium severity can be at 5-6 years  Mild can be late in life ...
Support worksheet – Chapter 4 - Cambridge Resources for the IB
Support worksheet – Chapter 4 - Cambridge Resources for the IB

... (b). A blue-eyed man, both of whose parents had brown eyes, marries a brown-eyed woman. They have one child who has blue eyes. What are the genotypes of the man, his parents, his wife and the child? ...
Ch16EukaryoticGeneControl - Environmental
Ch16EukaryoticGeneControl - Environmental

... One gene of an insertion sequence codes for transposase, which catalyzes the transposon’s movement. The inverted repeats, about 20 to 40 nucleotide pairs long, are backward, upside-down versions of each oth. In transposition, transposase molecules bind to the inverted repeats & catalyze the cutting ...
eprint_12_13279_954
eprint_12_13279_954

... what information is stored in the genes,how the genes are expressed and how the genetic information is transferred. Genetics is also the study of heredityand variation. The arrangement of genes within organisms is its genotype organism based on its genotype and the physical characteristics an and th ...
Chromosome structure & Gene Expression
Chromosome structure & Gene Expression

... chromosome. These bands are identical and characteristic for each pair of homologous chromosomes but differ between different chromosomes. At low resolution, human chromosomes have 300 dark G bands and light interbands. At high resolution there are 2000 of such bands. • Banding pattern of G bands is ...
pedigree - Mrs. Salmon Science
pedigree - Mrs. Salmon Science

... more than normal. Note the recessive x on the mother. Because males get one x they are Much more likely to have this trait. ...
DNA Mutation
DNA Mutation

... like NF1 (neurofibromatosis type 1) and DMD (Duchenne muscular dystrophy) (1 x 10-4) and those with low rates of new mutation like the Huntington's Disease gene (1 x 10-6). This hundred-fold range shows that mutation rates per gene can be intrinsically different. Why might this be? Two possible expl ...
Developing a new genetic system in bacteria
Developing a new genetic system in bacteria

Homologous Recombination DNA break repair by homologous
Homologous Recombination DNA break repair by homologous

... (b) A homologous duplex incorporates into this complex. (c) One of the strands in the duplex is transferred to the single strand originally bound in the filament. The other strand of the duplex is displaced. Important features of RecA: • A monomer binds ~3 nt or bp • Cooperative filament assembly 5’ ...
gene expression_hour 1 - study
gene expression_hour 1 - study

... DNA Replication Model… DNA Replication Process of copying a double stranded DNA strand which is the two resulting double strands are identical and each of them consist of one original and one newly synthesize strand. ...
Chapter 4A
Chapter 4A

... Protein domains can be encoded by a single exon or by a small collection of exons within a larger gene. The coding regions for domains can be spliced in or out of the primary transcript by the process of alternative splicing. The resulting mRNAs encode different forms of the protein, known as isofor ...
Study Guide for Test
Study Guide for Test

...  Understand all terms above and be able to put them into context. Pick three words (at random) and be able to form one sentence, incorporating all ideas together.  Review all journal entries, notes, and returned/stamped/scored/unscored work. Make corrections where appropriate and review correction ...
Chapter 24
Chapter 24

... • Leading strand is continuously synthesized, whereas lagging strand is discontinuously synthesized. • Discontinuously synthesized DNA fragments are called “Okazaki fragments”. • Each Okazaki fragment contains a small amount of RNA --- indicates that RNA is a primer in replication. • RNA primers are ...
What you absolutely need to know for the Regents Exam
What you absolutely need to know for the Regents Exam

The polymerase chain reaction (PCR)
The polymerase chain reaction (PCR)

Chapter 20~ DNA Technology & Genomics
Chapter 20~ DNA Technology & Genomics

... Electrophoresis use in forensics • Evidence from murder trial – Do you think suspect is guilty? blood sample 1 from crime scene blood sample 2 from crime scene blood sample 3 from crime scene ...
ANNEX 1
ANNEX 1

... Non-invasive prenatal testing of fetal Rhesus Non-invasive prenatal testing for X-linked disorders ...
< 1 ... 301 302 303 304 305 306 307 308 309 ... 494 >

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.
  • studyres.com © 2026
  • DMCA
  • Privacy
  • Terms
  • Report