Concentrations of the atherogenic Lp(a) are elevated in FH
... higher in FH individuals compared to non-FH relatives (p < 0.001), although the distribution of apo(a) alleles was not different in the two groups; (2) comparison of Lp(a) concentrations in 28 sib pairs, identical by descent (i.b.d.) at the apo(a) locus but non-identical for LDLR status, extracted f ...
... higher in FH individuals compared to non-FH relatives (p < 0.001), although the distribution of apo(a) alleles was not different in the two groups; (2) comparison of Lp(a) concentrations in 28 sib pairs, identical by descent (i.b.d.) at the apo(a) locus but non-identical for LDLR status, extracted f ...
Practice final key
... locus closely linked to the centromere of a chromosome and heterozygous Bb for another locus weakly linked to the centromere of the same chromosome. It is found that cells of the teratoma have the normal human female karyotype (XX; 22AA) and are homozygous A/A and heterozygous B/b. Which of the foll ...
... locus closely linked to the centromere of a chromosome and heterozygous Bb for another locus weakly linked to the centromere of the same chromosome. It is found that cells of the teratoma have the normal human female karyotype (XX; 22AA) and are homozygous A/A and heterozygous B/b. Which of the foll ...
Lethal Mutations and Balanced Lethal Systems in
... assumption that the frequency of lethals is the same for all chromosomes-an assumption unlikely to be fully justified-the lethal frequency for the whole genome was between 24 yoand 32 %. This agrees well with the 25 yo found by Kafer & Chen (1964) under similar conditions. Despite an intensive inves ...
... assumption that the frequency of lethals is the same for all chromosomes-an assumption unlikely to be fully justified-the lethal frequency for the whole genome was between 24 yoand 32 %. This agrees well with the 25 yo found by Kafer & Chen (1964) under similar conditions. Despite an intensive inves ...
The-NOS-problem
... They further supported that one of these mutants, which they called NOSC (actually dNOSC), had a homozygous lethal allele of NOS (and thus that NOS is essential) by doing the following: o They backcrossed 5 times and found that NOSC still had lethality, indicating that the lethality is not due to a ...
... They further supported that one of these mutants, which they called NOSC (actually dNOSC), had a homozygous lethal allele of NOS (and thus that NOS is essential) by doing the following: o They backcrossed 5 times and found that NOSC still had lethality, indicating that the lethality is not due to a ...
Histological classification and molecular genetics of meningiomas
... five following criteria may lead to the diagnosis of atypical meningioma: increased cellularity, high nuclear to cytoplasmic ratio (small cells), prominent nucleoli, uninterrupted patternless or sheet-like growth, and foci of spontaneous (not induced by embolism) necrosis. The issue of brain invasion ...
... five following criteria may lead to the diagnosis of atypical meningioma: increased cellularity, high nuclear to cytoplasmic ratio (small cells), prominent nucleoli, uninterrupted patternless or sheet-like growth, and foci of spontaneous (not induced by embolism) necrosis. The issue of brain invasion ...
Polyploidy
... • X chromosomes in females provide twice the genes, as in males, – Drosophila: female genes are expressed at 50% of the male levels, – Mammals: one X chromosome in females is silenced. ...
... • X chromosomes in females provide twice the genes, as in males, – Drosophila: female genes are expressed at 50% of the male levels, – Mammals: one X chromosome in females is silenced. ...
Variability of polyphenol oxidase (PPO) alleles located on
... This study used molecular markers that have been shown to be involved in the regulation of PPO activity located on chromosomes 2A, 2B, and 2D (Chang et al., 2007; Fuerst et al., 2008; Ge et al., 2004; Han et al., 2006; He et al., 2007; Wang et al., 2008; Wang et al., 2009). A study investigating the ...
... This study used molecular markers that have been shown to be involved in the regulation of PPO activity located on chromosomes 2A, 2B, and 2D (Chang et al., 2007; Fuerst et al., 2008; Ge et al., 2004; Han et al., 2006; He et al., 2007; Wang et al., 2008; Wang et al., 2009). A study investigating the ...
genetics and cytogenetics
... gametopbyte, any departure from these ideal conditions representt-: an aberration. The varIOUS types of aberrations are described in this §ection, and their bearing on problems of evolution is discussed. This material is often called "cytogenetics," although apy correlation at all between genetic da ...
... gametopbyte, any departure from these ideal conditions representt-: an aberration. The varIOUS types of aberrations are described in this §ection, and their bearing on problems of evolution is discussed. This material is often called "cytogenetics," although apy correlation at all between genetic da ...
Tapanes-Castillo A, Weaver EJ, Smith RP, Kamei Y, Caspary T, Hamilton-Nelson KL, Slifer SH, Martin ER, Bixby JL, Lemmon VP. Neurogenetics. 2012 Feb;11(1):53-71. A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.
... on the reason for the defect in CSF flow. Communicating hydrocephalus arises from problems with CSF secretion or resorption; CSF flows freely between the ventricles and the subarachnoid space. On the other hand, noncommunicating hydrocephalus develops when a physical obstruction blocks CSF flow betw ...
... on the reason for the defect in CSF flow. Communicating hydrocephalus arises from problems with CSF secretion or resorption; CSF flows freely between the ventricles and the subarachnoid space. On the other hand, noncommunicating hydrocephalus develops when a physical obstruction blocks CSF flow betw ...
SelectedJournalAsthm..
... population. Clin Exp Allergy 2003;33:1103-10. Van Eerdewegh P, Little RD, Dupuis J, et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002;418:426-30. Wilkinson J, Grimley S, Collins A, et al. Linkage of asthma to markers on chromosome 12 in a sample of 240 ...
... population. Clin Exp Allergy 2003;33:1103-10. Van Eerdewegh P, Little RD, Dupuis J, et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002;418:426-30. Wilkinson J, Grimley S, Collins A, et al. Linkage of asthma to markers on chromosome 12 in a sample of 240 ...
A surge of late-occurring meiotic double
... transgene is able to complement Spo11 mutation, we generated mice which expressed SPO11 exclusively from a hemizygous Spo11-IRES-Cre transgenic locus, henceforth referred to as Tg(Spo11)+/−. Testes from adult mice were analyzed histologically and compared to those of Spo11−/− and Spo11+/− littermate ...
... transgene is able to complement Spo11 mutation, we generated mice which expressed SPO11 exclusively from a hemizygous Spo11-IRES-Cre transgenic locus, henceforth referred to as Tg(Spo11)+/−. Testes from adult mice were analyzed histologically and compared to those of Spo11−/− and Spo11+/− littermate ...
Translation of Drug Metabolic Enzyme and Transporter (DMET) Genetic Variants into Star Allele Notation using SAS.
... DNA can be thought of as a sequence of nucleotides denoted by A, C, G and T. Locations along the DNA sequence that differ from person to person in the nucleotide(s) present at that location are called genetic variants. Currently, relatively inexpensive genotyping platforms can readily determine poin ...
... DNA can be thought of as a sequence of nucleotides denoted by A, C, G and T. Locations along the DNA sequence that differ from person to person in the nucleotide(s) present at that location are called genetic variants. Currently, relatively inexpensive genotyping platforms can readily determine poin ...
Coffee B, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE and Warren ST: Mosaic FMR1 Deletion Causes Fragile X Syndrome and Can Lead to Molecular Misdiagnosis: A Case Report and Review of the Literature. American J of Medical Genetics Part A 146A:1358-1367 (2008).
... However, other mutational mechanisms, such as deletions of FMR1, also cause fragile X syndrome. The result is the same for both the expansion mediated silencing and deletion, absence of the gene product, FMRP. We report here on an 11-year-old boy with a cognitive and behavioral profile with features ...
... However, other mutational mechanisms, such as deletions of FMR1, also cause fragile X syndrome. The result is the same for both the expansion mediated silencing and deletion, absence of the gene product, FMRP. We report here on an 11-year-old boy with a cognitive and behavioral profile with features ...
Facts About Spinal Muscular Atrophy
... begin, which in turn is roughly correlated with how much SMN protein there is in the motor neurons. The later the symptoms begin and the more SMN protein there is, the milder the course of the disease is likely to be. Most doctors, however, now consider SMN-related SMA to be a continuum of severity ...
... begin, which in turn is roughly correlated with how much SMN protein there is in the motor neurons. The later the symptoms begin and the more SMN protein there is, the milder the course of the disease is likely to be. Most doctors, however, now consider SMN-related SMA to be a continuum of severity ...
Persistence and Loss of Meiotic Recombination
... and degraded at the initiation site in only one of the interacting homologs—and this asymmetry is the source of the paradox. The asymmetry of the DSBR model was necessitated by the asymmetric gene conversion seen in crosses between strains of ascomycete fungi containing more-active and less-active a ...
... and degraded at the initiation site in only one of the interacting homologs—and this asymmetry is the source of the paradox. The asymmetry of the DSBR model was necessitated by the asymmetric gene conversion seen in crosses between strains of ascomycete fungi containing more-active and less-active a ...
Common Quantitative Trait Loci for Alcohol
... ethanol and NT measures. Provisional QTL for ethanol actions. It should be recognized that QTL analyses allow only a rough identification of genetic map locations of genes that exert modest effects on continuously distributed phenotypes. Results presented in table 2 show provisional QTL identified b ...
... ethanol and NT measures. Provisional QTL for ethanol actions. It should be recognized that QTL analyses allow only a rough identification of genetic map locations of genes that exert modest effects on continuously distributed phenotypes. Results presented in table 2 show provisional QTL identified b ...
Chromosomes Carrying Meiotic Avoidance Loci
... praealtum. LOA stimulates the differentiation of somatic aposporous initial cells after the initiation of meiosis in ovules. Aposporous initial cells undergo nuclear proliferation close to sexual megaspores, forming unreduced aposporous embryo sacs, and the sexual program ceases. LOA-linked genetic ...
... praealtum. LOA stimulates the differentiation of somatic aposporous initial cells after the initiation of meiosis in ovules. Aposporous initial cells undergo nuclear proliferation close to sexual megaspores, forming unreduced aposporous embryo sacs, and the sexual program ceases. LOA-linked genetic ...
Genetic balancers
... H.R. (1980) kept them as heterozygotes over an unc-93 dpy-17 chromosome. These animals were Unc-93 in phenotype because the deficiencies deleted unc-93, and they segregated Unc-93, Unc-93 Dpy-17, and lethal (deficiency homozygote) progeny. The deficiencies could be maintained by picking Unc animals, ...
... H.R. (1980) kept them as heterozygotes over an unc-93 dpy-17 chromosome. These animals were Unc-93 in phenotype because the deficiencies deleted unc-93, and they segregated Unc-93, Unc-93 Dpy-17, and lethal (deficiency homozygote) progeny. The deficiencies could be maintained by picking Unc animals, ...
Chromosome location and characterization of genes for grain
... The three lines LDN(521-3A) (207.4 g m-1), LDN(742-2B) (212.2 g m-1), and LDN(742-7B) (233.7 g m-1) had the lowest yields among the LDN-DIC lines.. The three lines all had unique characteristics contributing to their low grain yield. LDN(521-3A) produced weak plants and were the shortest in plant he ...
... The three lines LDN(521-3A) (207.4 g m-1), LDN(742-2B) (212.2 g m-1), and LDN(742-7B) (233.7 g m-1) had the lowest yields among the LDN-DIC lines.. The three lines all had unique characteristics contributing to their low grain yield. LDN(521-3A) produced weak plants and were the shortest in plant he ...
15_chapter 5
... In real world applications, the search space is defined by a set of objects, each of which has different parameters. The objective of optimisation problem working on these parameters is to optimise them. Genetic algorithms are also categorised as optimisation algorithms. Every search and optimisatio ...
... In real world applications, the search space is defined by a set of objects, each of which has different parameters. The objective of optimisation problem working on these parameters is to optimise them. Genetic algorithms are also categorised as optimisation algorithms. Every search and optimisatio ...
Mendelian genetics
... anaphase I. • For each chromosome pair, there is a 50% chance of getting either chromosome. • Independent assortment: the idea that each gamete randomly receives chromosomes in meiosis. ...
... anaphase I. • For each chromosome pair, there is a 50% chance of getting either chromosome. • Independent assortment: the idea that each gamete randomly receives chromosomes in meiosis. ...
Mutants of the Drosophila ncd microtubule motor
... Oocytes of ncdD/ncdD females exhibit defective meiotic chromosome segregation, but embryos of ncdD/ncdD females are near wild-type for mitotic segregation (Komma et al., 1991). Two amino acids are changed in ncdD compared with ncd (Komma et al., 1991). One, D→S at residue 696, has also been found in ...
... Oocytes of ncdD/ncdD females exhibit defective meiotic chromosome segregation, but embryos of ncdD/ncdD females are near wild-type for mitotic segregation (Komma et al., 1991). Two amino acids are changed in ncdD compared with ncd (Komma et al., 1991). One, D→S at residue 696, has also been found in ...
Gene interactions in the evolution of genomic imprinting
... ‘additive-by-additive’ epistasis, see Cheverud and Routman, 1996). To reflect this pattern, we assign the same subscripts to those alleles that work best together. We focus on this form of epistasis because it does not contain any dominance effect, and therefore these models are not influenced by se ...
... ‘additive-by-additive’ epistasis, see Cheverud and Routman, 1996). To reflect this pattern, we assign the same subscripts to those alleles that work best together. We focus on this form of epistasis because it does not contain any dominance effect, and therefore these models are not influenced by se ...