Chromosomal deletion 4p15.32→p14 in a treacher collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region

Genomics ◽  
1991 ◽  
Vol 11 (1) ◽  
pp. 188-192 ◽  
Author(s):  
Ethylin Wang Jabs ◽  
Cathleen A. Coss ◽  
Susan J. Hayflick ◽  
Theodore E. Whitmore ◽  
Richard M. Pauli ◽  
...  
Keyword(s):  
Dna Sequences ◽  
Disease Locus ◽  
Treacher Collins Syndrome ◽  
Chromosomal Deletion ◽  
Syndrome Patient

Speech language pathology findings in a Treacher Collins syndrome patient

2016 ◽  
Vol 20 (1) ◽  
Author(s):  
Giselle Massi ◽  
Dayane Roberta de França ◽  
Rosane Sampaio Santos ◽  
Angela Ribas ◽  
Vinícios Duarte Fonseca ◽  
...  
Keyword(s):  
Treacher Collins Syndrome ◽  
Syndrome Patient ◽  
Speech Language Pathology ◽  
Language Pathology

scholarly journals Linkage exclusion between the autosomal dominant polycystic kidney disease locus and chromosome 16 markers in a new family.

1991 ◽  
Vol 2 (4) ◽  
pp. 913-919
Author(s):  
J E Brissenden ◽  
J M Roscoe ◽  
N E Simpson ◽  
M Silverman
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Dna Sequences ◽  
Autosomal Dominant ◽  
Family Members ◽  
Disease Locus ◽  
Chromosome 16 ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Recombination Value

A family segregating for autosomal dominant polycystic kidney disease (ADPKD) is reported. The clinical picture was typical for ADPKD in some family members, although others showed mild involvement. DNA from family members was probed with seven chromosome 16 single-copy DNA sequences that mapped to the telomere of the short arm of the chromosome. The most likely order of six of the probes from the telomere is palpha3'HVR.64 at the designated locus D16S85, CRI-0327 at D16S63, CRI-090 at D16S45, CRI-0129 at D16S56, CRI-0133 at D16S58, and CRI-0136 at D16S60, with the PKD1 locus for ADPKD between D16S85 and D16S63. The seventh probe 24-1 at D16S80 had not been ordered in relation to the other sequences, but PKD1 had been mapped between it and D16S85. The three probes that were informative in our family, palpha3'HVR.64, CRI-090, and CRI-0136 had been linked to the disease locus at recombination frequencies of 4% and approximately 6 and 12%, respectively. Linkage was excluded between the ADPKD locus in our family and palpha3'HVR.64 at a recombination value of up to 6%. Linkage was also excluded between CRI-090 and the disease locus at a recombination value of up to 5%. The data for linkage between CRI-0136 and the ADPKD locus in our family were inconclusive. Multipoint analysis excluded the possibility that the disease in this family lies between the flanking genetic markers that have previously been used to define the genetic interval in which the most common form of polycystic kidney disease, PKD1, lies. We have not made a positive assignment of the ADPKD mutation in this family.(ABSTRACT TRUNCATED AT 250 WORDS)

scholarly journals Intubating a Treacher Collins Syndrome patient with STRIVE Hi and videolaryngoscopy

2020 ◽  
Vol 6 (2) ◽  
Keyword(s):  
Spontaneous Breathing ◽  
High Flow ◽  
Treacher Collins Syndrome ◽  
Spontaneous Respiration ◽  
Craniofacial Abnormalities ◽  
Syndrome Patient ◽  
Successful Intubation ◽  
Intravenous Anaesthesia ◽  
Induction Technique ◽  
Difficult Airways

Treacher Collins Syndrome (TCS) is characterised by craniofacial abnormalities which pose a unique airway challenge for anaesthetists. For these patients requiring general anaesthesia and endotracheal intubation, maintaining spontaneous breathing throughout induction should be considered foundational to safety. Spontaneous respiration using intravenous anaesthesia and high-flow nasal oxygen (STRIVE Hi) has been previously shown to safely induce patients with difficult airways. This case demonstrates the first described successful intubation of an adult TCS patient with hyperangulated blade videolaryngoscopy “GlideScope LoPro S4” using a STRIVE Hi induction technique. Key Words: Treacher Collins Syndrome intubation, STRIVE Hi, Videolaryngoscopy.

Transcription factor/DNA interactions visualized by electron spectroscopic imaging

1992 ◽  
Vol 50 (1) ◽  
pp. 450-451
Author(s):  
David P. Bazett-Jones ◽  
Mark L. Brown
Keyword(s):  
Transcription Factor ◽  
Dna Sequences ◽  
Transcription Initiation ◽  
Molecular Mechanisms ◽  
Phosphorus Content ◽  
Spectroscopic Imaging ◽  
Electron Spectroscopic Imaging ◽  
Dna Backbone ◽  
Two Parameters ◽  
High Level

A multisubunit RNA polymerase enzyme is ultimately responsible for transcription initiation and elongation of RNA, but recognition of the proper start site by the enzyme is regulated by general, temporal and gene-specific trans-factors interacting at promoter and enhancer DNA sequences. To understand the molecular mechanisms which precisely regulate the transcription initiation event, it is crucial to elucidate the structure of the transcription factor/DNA complexes involved. Electron spectroscopic imaging (ESI) provides the opportunity to visualize individual DNA molecules. Enhancement of DNA contrast with ESI is accomplished by imaging with electrons that have interacted with inner shell electrons of phosphorus in the DNA backbone. Phosphorus detection at this intermediately high level of resolution (≈lnm) permits selective imaging of the DNA, to determine whether the protein factors compact, bend or wrap the DNA. Simultaneously, mass analysis and phosphorus content can be measured quantitatively, using adjacent DNA or tobacco mosaic virus (TMV) as mass and phosphorus standards. These two parameters provide stoichiometric information relating the ratios of protein:DNA content.

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