Schematic drawing of the human X chromosome and physical map the Xp interval carrying the ND gene. A 640-kb yeast artificial chromosome (YAC) clone was.

Slides:



Advertisements
Similar presentations
A: Population frequency histogram of urinary debrisoquine/4-hydroxydebrisoquine ratios after debrisoquine administration to 258 individuals in a healthy.
Advertisements

Genomic organization of the human cathepsin K gene
Genetic strategies used to create a mouse model of SMA
Simplified view of the cellular RNA and protein quality surveillance or control systems. Stop-codon introductions as well as splice-site variations, resulting.
Simplified view of the cellular RNA and protein quality surveillance or control systems. Stop-codon introductions as well as splice-site variations, resulting.
A, Diagnosis of clinical severity (mild, moderate, severe) of hemophilia is based on in vitro coagulant activity as shown. B, Distribution of severe and.
Spectrum of different types of human gene mutations logged in Human Gene Mutation Database as of September 13, 1998 ( Source: The.
Physical map of a human chromosome
Advantages of isolated liver transplantation before kidney failure over combined liver-kidney transplantation afterwards. Oxalate excretion: Black line.
Patterns of genetic change in neuroblastomas
Reverse-dot ASO analysis for various point mutations causing cystic fibrosis. For each mutation, the PCR product is hybridized to an ASO dot on the left.
Morphologic appearance of EH skin. Shown is a semithin section (0
Distribution of diagnoses among the nearly 115,000 cases of lymphoid malignancy diagnosed in There are 5400 cases of acute lymphoid leukemia (ALL),
Distribution of diagnoses among the nearly 115,000 cases of lymphoid malignancy diagnosed in There are 5400 cases of acute lymphoid leukemia (ALL),
IX; formation of sphingolipids, sphingosine is synthesised from L-serine and palmitoyl-CoA. Source: Serine deficiency disorders, The Online Metabolic and.
Proposed model for the structure of ABC1 within the plasma membrane (modified from reference202 ). The two symmetric halves consisting of six membrane-spanning.
Illustration of the origin of tubular cysts
Structure of the A-subunit gene and identified mutations
The lymphocyte markers that distinguish the various stages of B-cell differentiation are shown. Markers that are expressed on the cell surface are indicated.
Southern blot analysis of the X-linked red-green gene locus
Schematic representation of the DTDST protein
Radiographic appearance of intracranial meningioma in NF2
Pedigree of a familial retinoblastoma case that shows no evidence of meiotic recombination. Closed symbols = bilaterally affected family members; half-closed.
YAC and BAC cloning systems
The PKD1 and PKD2 gene products are integral transmembrane proteins
Distribution of CpG dinucleotide in the human genome and differences in methylation patterns between normal and tumor cells. In the majority of the mammalian.
Prototypical eukaryotic gene
A section of the cerebellum stained with Sevier-Munger preparation from the brain of a 10-year-old SCA1 patient with 82 CAG repeats who died after 6 years.
Effect of chenodeoxycholic acid feeding on the bilirubin levels of a 10-year-old boy with 3β-hydroxy-Δ5-oxidoreductase/isomerase deficiency. (From Setchell.
Urinary excretion (mg/h) of tryptophan derivatives following administration of oral L-tryptophan (about 70 mg per kilogram body weight) administered to.
Neuropathology. Photomicrographs of the cerebellum
Free energy folding landscape for a hypothetical protein
Representation of Southern blot analysis revealing an expanding triplet repeat mutation in a myotonic dystrophy family. A grandmother and mother with the.
Progressive myopathy in a patient with type IIIa glycogen storage disease. The patient has a debrancher deficiency in both liver and muscle (subtype IIIa).
Model depicting the cycling of REP
Basal and peak serum thyrotropin (TSH) concentrations following intravenous administration of 500 μg thyrotropin-releasing factor (TRF) to subjects with.
Relation between the fractional catabolic rate (FCR) for plasma LDL and the number of LDL receptors on fibroblasts in patients with FH. The values for.
Fluorescence in situ hybridization (FISH). Figs
Evolution of the ubiquitous α-, β-, and γ-crystallins and their structure. Details are described in the text. The α-crystallins are related to heat-shock.
Depiction of meiotic crossing over and linkage analysis
Genetic markers and their detection
A comparison of normal cardiac anatomy (A) and the pathology of hypertrophic cardiomyopathy (B). Hypertrophic cardiomyopathy causes cardiomegaly (570 g;
Amino acid sequence and tentative structure for human prepro factor IX
Structure and mutation spectrum of BRCA1
Orofacial dyskinesia in a patient with Huntington's disease
Structural organization of the α1(VII) polypeptide of type VII collagen, as deduced by molecular cDNA cloning, and the distribution of COL7A1 mutations.
OCTN2 mRNA in fibroblasts from normal controls and patients with primary carnitine deficiency. PolyA RNA isolated from fibroblasts of normal controls or.
Photosensitive skin lesions on the face of a child with C4 deficiency
Expression of mutant human P5C dehydrogenase alleles in yeast
Karyotype of glioblastoma
Hydrolysis of membrane-associated ceramide by acid ceramidase in the presence of saposins and bis(monoacylglycero)phosphate (BMP) in the acidic lysosomal.
Construction of clone-based physical maps suitable for sequencing the human genome. The first-generation physical maps of human chromosomes constructed.
MRI contrast-enhancement and progression of X-ALD
Key structural elements of p53 DNA binding
Electrophoregram profiles showing the 35delG mutation of CX26 (GJB2) in an individual with recessively inherited hearing loss, and in his heterozygous.
YAC and BAC cloning systems
Corneal opacity in a heterozygote observed by slit-lamp microscopy
FISH of glioblastoma. This interphase nucleus from a glioblastoma contains three chromosome 7 centromere signals (dark) and one centromere 10 signal (light).
Young female with OCA1B. The hair was white at birth
Overview of the TGF-β signaling pathway
Schematic representation of p53 molecule
Structural features of the p53 gene and its encoded protein
Hepatic glucose production as a function of fasting plasma glucose levels. These studies involved the same individuals who were studied in Fig
Basic algorithm for cancer risk assessment that employs gene testing.
Detection of XIST RNA in interphase cells from a normal male, a normal female, and a 49,XXXXX female by RNA fluorescence in situ hybridization. Male.
Structure and mutation spectrum of BRCA2
Composite megalosaccharide proposed for blood group substance
Complete chemical structures of the neutral glycosphingolipids that accumulate in Fabry disease. A, Globotriaosylceramide, the major accumulated substrate.
The PBDs can be caused by defects in peroxisomal matrix protein import or peroxisome membrane synthesis. Immunofluorescence microscopy shows that human.
DNA analysis on patients with STS deficiency
Presentation transcript:

Schematic drawing of the human X chromosome and physical map the Xp interval carrying the ND gene. A 640-kb yeast artificial chromosome (YAC) clone was isolated containing DXS7 and the MAO genes, which had been shown previously to flank the ND locus. A cosmid contig was constructed in the respective region, and several clones from this contig (A10, G8, and M8) detected small deletions in ND patients (open bars). The cosmids were then used for isolation of complementary DNA clones, and alignment of cDNA and genomic sequence data established the exon-intron structure of the ND gene. The gene consists of three exons interrupted by two introns of 15 and 9 kb, respectively. The open reading frame (ORF) is contained entirely within exons 2 and 3 and codes for a polypeptide of 133 amino acids (black bars). The orientation of the genes is indicated by arrows below the boxes representing the ND and MAO genes. Source: Norrie Disease, The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: https://ommbid.mhmedical.com/DownloadImage.aspx?image=/data/books/971/ch239fg1.png&sec=62662581&BookID=971&ChapterSecID=62662552&imagename= Accessed: October 26, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved