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Slide 1
Slide 1

... •Human genome is believed to be 250 million nucleotides long. Four possible nucleotides. Thus 4250,000,000 possible sequences in the human genome. •An average single coding gene sequence might be about 10,000 bases long. Thus, 410,000 possibilities for an average gene. •Some genetic information is a ...
Plant Telomere Biology
Plant Telomere Biology

... natural ends of larger eukaryotic chromosomes had a similar structure. Presumably, these short simple repeats somehow defended chromosomes against the end replication problem and other assaults on their integrity. In 1988, Eric Richards, then a graduate with Fred Ausubel at Harvard, cloned telomeric ...
Congenital adrenal hyperplasia syndrome and testicular
Congenital adrenal hyperplasia syndrome and testicular

... Partial androgen insensitivity syndrome (PAIS): mildly virilized female external genitalia (clitorimegaly without other external anomalies) to mildly undervirilized male external genitalia (hypospadias and/or diminished penile size) ...
fragments
fragments

... "In the future we might be able to use these epigenetic biomarkers to determine your ancestral and personal exposure early in life and to predict your susceptibility to get a disease later in life," Skinner said. The study was funded by the U.S. Army to study pollutants that troops might be exposed ...
Making sense of genetic variation!
Making sense of genetic variation!

... Population genetics describes variation within and between species There are two major areas of interest: •!Describe degrees of genetic variation within and between individuals and/or population •!infer the evolutionary mechanisms responsible for the origins and maintenance of genetic variation Muta ...
Document
Document

... was conducted by staff at the JHI with up to 15 lesions sampled per disease outbreak (n=116 outbreaks). Over the 2006, 2007 and 2008 seasons from across GB, infected crops were identified by Potato Council blight scouts, as above, but 8 or more samples were provided per blight outbreak (n=672 outbre ...
Educator's Resource Guide 4226  Biology 1 s 4-5
Educator's Resource Guide 4226 Biology 1 s 4-5

... ▶ Organisms that have two identical alleles for a gene are homozygous for that trait. If they have different alleles for the same gene, they are heterozygous for that trait. ▶ Physical traits are an organism’s phenotype. Its genotype is its genetic makeup. ▶ A Punnett square is a mathematical tool t ...
Evaluation of Progress of Labour/Dystocia
Evaluation of Progress of Labour/Dystocia

... Prodromal Labour – Irregular uterine contractions that subside with rest and relaxation. No significant cervical dilatation in response to uterine contractions. Latent Phase of First Stage of Labour – First phase of labour in the presence of uterine activity resulting in progressive effacement and d ...
ABO Blood Group and Rhd Phenotypes in Bahrain: Results of
ABO Blood Group and Rhd Phenotypes in Bahrain: Results of

... The National Project for Prevention of Hereditary Blood Diseases in Bahrain was a collaborative project between the Ministry of Health, Ministry of Education, Rotary Club of Manama, and Bahrain Hereditary Anemia Society. All students in the 11th grade who belonged to the age group 16-20 years were s ...
Nutrition Before and During Pregnancy
Nutrition Before and During Pregnancy

... produce adequate amounts of insulin to deal with sugar during pregnancy. – If gestational diabetes is controlled during pregnancy, there is little risk of complications. However, if not controlled the pregnancy may result in very high birth weight, premature birth, or possible death of the fetus or ...
(Genetics) Study Guide KEY
(Genetics) Study Guide KEY

... Polygenic inheritance (Poly=many and genic=genes) – Traits that are coded for by multiple genes. This results in a CONTINUUM of possible phenotypes (i.e. hair color, eye color, skin color, height). To remember this type of inheritance, think poly = many so this results in many phenotypes (hundreds o ...
Oviduct-specific Glycoprotein 1 Locus is Associated with Litter Size
Oviduct-specific Glycoprotein 1 Locus is Associated with Litter Size

... of the ESR genotype on litter size (Legault et al., 1996). The observed difference between Qingping sows and F2 gilts may be explained that there are variations in the genetic background. In addition, the observed effects might be caused by the linkage of this locus with other quantitative trait loc ...
BWS - Beckwith-Wiedemann Syndrome support
BWS - Beckwith-Wiedemann Syndrome support

... • A growth promoting gene Insulin-like Growth Factor II (IGF2 which is active from the paternal chromosome). It can be predicted that genetic changes that result in reduced activity of CDKN1C or increased activity of IGF2 (or both!) would cause overgrowth. The activity of both of CDKN1C and IGF2 is ...
7.014 Genetics Section Problems
7.014 Genetics Section Problems

... iii) To be type B, individual 3 must have gotten an io ALK- chromosome from Dad and an I B ALK+ chromosome from Mom. iv) Individual 4 got an IA ALK- chromosome from Mom and an io ALK- chromosome from Dad. If no recombination occurred, then for this impending child the chance of getting I B ALK+ chro ...
Minireview Alpha Satellite and the Quest for the Human Centromere
Minireview Alpha Satellite and the Quest for the Human Centromere

... These include LINEs, Alu repeats, and other satellites (Lee et al., 1997), which are predominantly present in other parts of the genome that never associate with kinetochores, suggesting that they are not by themselves sufficient for centromere function. However, complete sequencing of alpha satelli ...
Characterisation of interstitial duplications and triplications of
Characterisation of interstitial duplications and triplications of

... a single distal breakpoint between D15S217 and D15S1019. Proximally, there were exactly equal numbers of type I and type II breakpoints. In contrast, the breakpoints of the triplications were more variable, although, by molecular analysis, the three copies of the PWACR present in each triplication a ...
Pregnancy and death: An examination of pregnancy
Pregnancy and death: An examination of pregnancy

... escents is particularly dangerous, with a global prevalence of ~1.9% and rates in Africa as high as 5.2%.[31] Adolescents are at higher risk of pre-eclampsia than older females (20 - 29 years), and the known con­sequences include low birth weight and preterm delivery.[31,32] Therefore, among pregnan ...
Biotechnology
Biotechnology

... 1. Which of the following are important features for transcription? a. promoter b. RNA polymerase c. 5′and 3′UTRs d. ORF e. all of the above 2. For which of the following nitrogenous bases does DNA substitute thymine? a. uracil b. adenine c. guanine d. cytosine e. inosine 3. Which of the following ...
Antibiotic resistance genes are carried on plasmids
Antibiotic resistance genes are carried on plasmids

... transfer a copy of the R-plasmids to other bacteria, making them also multiple antibiotic resistant and able to produce a conjugation pilus. In addition, some exotoxins , such as the tetanus exotoxin and Escherichia coli enterotoxin discussed later in this unit under Bacterial Pathogenicity, are als ...
Genetics of Renal Disorders
Genetics of Renal Disorders

... • Most severe forms early in life, usually fatal within months ...
Kinoshita, T et al.
Kinoshita, T et al.

... own product, is to date limited to plants, although the Polycomb complex is known to play a role in silencing of imprinted genes in the mammalian placenta [24]. Thus, DNA methylation and repression by the Polycomb complex are conserved aspects of genomic imprinting in placental mammals and flowering ...
Phenotype versus genotype reporting for DNA polymorphisms
Phenotype versus genotype reporting for DNA polymorphisms

... In the PI 2001A mailing at the HUMTH01 locus the child’s allele had a primer site mutation, causing a lack of amplification with one of two manufacturer’s kits. The sample did not achieve consensus as 39 laboratories reported two alleles, while 31 reported a single allele. It is clear from the resul ...
DNA Crystallography
DNA Crystallography

... them is shared online in “protein data banks”. If you look here, you can see one current count:  http://www.rcsb.org/pdb/statistics/holdings.do    As of 2009, about 60,000 proteins have known  structures, most determined through X‐ray diffraction methods.  ...
Gene targeting by hybridization-hydrolysis process
Gene targeting by hybridization-hydrolysis process

... abundance of the corresponding transcripts in cells, different human genes were chosen as examples to represent three main classes of abundance.2 Actin gamma 1 (ACTG1), actin beta (ACTB) and ribosomal protein L3 (RPL3), with respectively 13938, 10729 and 8508 sequences found in the GenBank® database ...
Molecular applications in cytogenetics
Molecular applications in cytogenetics

... embryos, ¼ multiple pregnancies associated with risk to mother and child ...
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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.
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