How Biologists Conceptualize Genes: An empirical study
... regulation of more than one gene. It is perhaps unproblematic to regard regulatory regions that are not transcribed into RNA as neither genes themselves nor parts of any ...
... regulation of more than one gene. It is perhaps unproblematic to regard regulatory regions that are not transcribed into RNA as neither genes themselves nor parts of any ...
uncorrected page proofs
... the X chromosome? Refer to the box on page xxx to read about the crosses involving an X-linked gene that were carried out by TH Morgan. Morgan was the first to demonstrate that one particular gene was located on one particular chromosome (refer to figure 14.1). People normally have three colour rece ...
... the X chromosome? Refer to the box on page xxx to read about the crosses involving an X-linked gene that were carried out by TH Morgan. Morgan was the first to demonstrate that one particular gene was located on one particular chromosome (refer to figure 14.1). People normally have three colour rece ...
Induction of the white egg3 mutant phenotype by injection of the
... embryonic genes in the red flour beetle, Tribolium castaneum (Brown et al., 1999). It was also effective in silencing larval haemocyte genes in the flesh fly Sarcophaga (Nishikawa & Natori, 2001). However, efforts to silence late-acting genes using dsRNA injected into early embryos have met with lit ...
... embryonic genes in the red flour beetle, Tribolium castaneum (Brown et al., 1999). It was also effective in silencing larval haemocyte genes in the flesh fly Sarcophaga (Nishikawa & Natori, 2001). However, efforts to silence late-acting genes using dsRNA injected into early embryos have met with lit ...
Chromosome Theory
... The Lyon Hypothesis Having extra chromosomes causes problems (i.e., Downs Syndrome) Men have only one X chromosome and they are normal (at least they think so) Women have two X chomosomes and they are normal Mary Lyon proposed that the extra dosage of X chromosome that women have is compensat ...
... The Lyon Hypothesis Having extra chromosomes causes problems (i.e., Downs Syndrome) Men have only one X chromosome and they are normal (at least they think so) Women have two X chomosomes and they are normal Mary Lyon proposed that the extra dosage of X chromosome that women have is compensat ...
Mutation Rates
... energy and time required to further reduce mutation rates. In microorganisms, the rate of mutation for any nucleotide (point mutations) is generally included between 10-9 and 10-10 per DNA replication. ...
... energy and time required to further reduce mutation rates. In microorganisms, the rate of mutation for any nucleotide (point mutations) is generally included between 10-9 and 10-10 per DNA replication. ...
Legal Liability for Genetic Injuries From Radiation
... Mongolism has a naturally or spontaneously occurring incidence in the general population. It is also a congenital (present at birth) defect which could be induced by radiation exposure of either parent before conception or of the developing embryo at or immediately after conception. The mother and f ...
... Mongolism has a naturally or spontaneously occurring incidence in the general population. It is also a congenital (present at birth) defect which could be induced by radiation exposure of either parent before conception or of the developing embryo at or immediately after conception. The mother and f ...
ABCA3 Gene Mutations in Newborns with Fatal
... These included homozygous nonsense mutations in codons 106 and 1142, a homozygous frameshift mutation, and heterozygous insertion mutations and splice-site mutations. Seven missense mutations were identified in conserved amino acids (Fig. 2), including homozygous substitutions of proline for leucine ...
... These included homozygous nonsense mutations in codons 106 and 1142, a homozygous frameshift mutation, and heterozygous insertion mutations and splice-site mutations. Seven missense mutations were identified in conserved amino acids (Fig. 2), including homozygous substitutions of proline for leucine ...
Supplementary Material (doc 236K)
... search is to be specified, then tab=0 is recommended. If the tab parameter is omitted, then the other parameters will be used to fill in the search form, but no search will be performed until the user clicks on the "Search" button. Phenotype search Parameter: phenoTrait Value: the exact name of a tr ...
... search is to be specified, then tab=0 is recommended. If the tab parameter is omitted, then the other parameters will be used to fill in the search form, but no search will be performed until the user clicks on the "Search" button. Phenotype search Parameter: phenoTrait Value: the exact name of a tr ...
REVIEW Mouse models of human disease. Part I: Techniques and
... series of RI strains, and the large number of loci that are often involved in disease development. The latter limitation has been somewhat circumvented by the development of a modified type of RI strain called a recombinant congenic (RC) strain (for review, see Justice et al. 1992). RC strains are p ...
... series of RI strains, and the large number of loci that are often involved in disease development. The latter limitation has been somewhat circumvented by the development of a modified type of RI strain called a recombinant congenic (RC) strain (for review, see Justice et al. 1992). RC strains are p ...
MGF 110-13L/14L overlap
... Trunc - 014 [MGF 110-7L/MGF 360-6L Fusion Protein]: This gene is a fusion between the MGF 110-7L ortholog and MGF 360-6L. The amino terminus of this fusion is not shown since it is outside the scope of this diagram. The annotated ortholog for this gene is: “Truncated MGF 360 protein” which has been ...
... Trunc - 014 [MGF 110-7L/MGF 360-6L Fusion Protein]: This gene is a fusion between the MGF 110-7L ortholog and MGF 360-6L. The amino terminus of this fusion is not shown since it is outside the scope of this diagram. The annotated ortholog for this gene is: “Truncated MGF 360 protein” which has been ...
PDF - 2.6 MB
... 2. Raffinose is a sugar that requires the lactose permease (LacY gene product) to enter an E. coli cell. However, raffinose does not act as an inducer for the Lac operon. Wild type (Lac+ ) E. coli can not grow on raffinose as the only carbon source because without an inducer of the Lac operon there ...
... 2. Raffinose is a sugar that requires the lactose permease (LacY gene product) to enter an E. coli cell. However, raffinose does not act as an inducer for the Lac operon. Wild type (Lac+ ) E. coli can not grow on raffinose as the only carbon source because without an inducer of the Lac operon there ...
Japanese morning glory dusky mutants displaying reddish
... (a) Anthocyanin biosynthesis pathway. The enzymes catalyzing each step in the pathway are represented in upper-case letters, and the corresponding genetic loci are represented in italics. CHS, chalcone synthase; CHI, chalcone isomerase; F3H, flavanone 3-hydroxylase; F3¢H, flavonoid 3¢-hydroxylase; D ...
... (a) Anthocyanin biosynthesis pathway. The enzymes catalyzing each step in the pathway are represented in upper-case letters, and the corresponding genetic loci are represented in italics. CHS, chalcone synthase; CHI, chalcone isomerase; F3H, flavanone 3-hydroxylase; F3¢H, flavonoid 3¢-hydroxylase; D ...
A review of Oculocutaneous Albinism and its syndromes., EDOJ2(2
... individuals are recognized as having albinism because they have all of the ocular features of albinism. The iris has punctuated and radial translucency, and moderate retinal pigment is present. The skin may darken with sun exposure[6]Visual acuity ranges from 20/60 to 20/150. The phenotype in Caucas ...
... individuals are recognized as having albinism because they have all of the ocular features of albinism. The iris has punctuated and radial translucency, and moderate retinal pigment is present. The skin may darken with sun exposure[6]Visual acuity ranges from 20/60 to 20/150. The phenotype in Caucas ...
Human Apolipoprotein A-l-C-lll Gene Complex is Located on
... proposed that the apolipoproteins were all derived from a common evolutionary precursor. The common function, structure, and perhaps even evolutionary background of the apolipoproteins suggests that their genes comprise a multigene family. Families of related DNA sequences have been described for th ...
... proposed that the apolipoproteins were all derived from a common evolutionary precursor. The common function, structure, and perhaps even evolutionary background of the apolipoproteins suggests that their genes comprise a multigene family. Families of related DNA sequences have been described for th ...
Mutation at the phenylalanine hydroxylase gene (PAH) and its use
... The term ‘disease-causing’ implies mutations causing hyperphenylalaninemia (HPA). The terms ‘chromosome’, ‘allele’ and ‘mutation’ are used both according to their conventional definitions29 and in particular contexts here. Chromosome is the operative word describing the physical source in the blood ...
... The term ‘disease-causing’ implies mutations causing hyperphenylalaninemia (HPA). The terms ‘chromosome’, ‘allele’ and ‘mutation’ are used both according to their conventional definitions29 and in particular contexts here. Chromosome is the operative word describing the physical source in the blood ...
A missense mutation in growth differentiation factor 9 (GDF9) is
... Background: A genome wide association study for litter size in Norwegian White Sheep (NWS) was conducted using the recently developed ovine 50K SNP chip from Illumina. After genotyping 378 progeny tested artificial insemination (AI) rams, a GWAS analysis was performed on estimated breeding values (E ...
... Background: A genome wide association study for litter size in Norwegian White Sheep (NWS) was conducted using the recently developed ovine 50K SNP chip from Illumina. After genotyping 378 progeny tested artificial insemination (AI) rams, a GWAS analysis was performed on estimated breeding values (E ...
Leukaemia Section 3q27 rearrangements in non Hodgkin lymphoma,
... The cell of origin is probably a large transformed Bcell, frequently deriving from the follicle centre, harbouring somatic hypermutation of the Ig genes and ongoing mutations (antigen driven stimulation). The phenotype is usually CD19+, CD22+, CD10-/+, SIg+. Epidemiology 10-20% of DLCL carry 3q27 tr ...
... The cell of origin is probably a large transformed Bcell, frequently deriving from the follicle centre, harbouring somatic hypermutation of the Ig genes and ongoing mutations (antigen driven stimulation). The phenotype is usually CD19+, CD22+, CD10-/+, SIg+. Epidemiology 10-20% of DLCL carry 3q27 tr ...
Association of functionally significant Melanocortin
... North American adults was 2.25% (CI95%: 1.44– 3.47) compared with a prevalence of 0.64% (CI95%: 0.26 – 1.43) in lean controls (P ¼ 0.005) (OR ¼ 4.3). In addition, a total of 41 subjects carried the common variant Val103Ile and 12 subjects carried the common variant Leu251Ile (Table 2). The frequency ...
... North American adults was 2.25% (CI95%: 1.44– 3.47) compared with a prevalence of 0.64% (CI95%: 0.26 – 1.43) in lean controls (P ¼ 0.005) (OR ¼ 4.3). In addition, a total of 41 subjects carried the common variant Val103Ile and 12 subjects carried the common variant Leu251Ile (Table 2). The frequency ...
Duchenne muscular dystrophy: A Guide for Parents
... If you have a daughter, she should be told about the significant side effects. Some families choose not to possibility of being a carrier. You can do this when use it. you think she is old enough to understand. She should get genetic counseling and carrier testing Boys who take Deflazacort are usual ...
... If you have a daughter, she should be told about the significant side effects. Some families choose not to possibility of being a carrier. You can do this when use it. you think she is old enough to understand. She should get genetic counseling and carrier testing Boys who take Deflazacort are usual ...
Microarray-based comparative genomic hybridisation (array CGH)
... The other disadvantage of array CGH is that it may identify chromosome changes, known as copy number variants (CNVs). These changes are common in the general population and are often completely harmless. But sometimes a CNV can affect health or development. CNVs can make interpreting an array CGH di ...
... The other disadvantage of array CGH is that it may identify chromosome changes, known as copy number variants (CNVs). These changes are common in the general population and are often completely harmless. But sometimes a CNV can affect health or development. CNVs can make interpreting an array CGH di ...
Saethre–Chotzen syndrome
Saethre–Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.