Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency

2002 ◽  
Vol 22 (1) ◽  
pp. 38-41 ◽  
Author(s):  
B. C. Paton ◽  
P. B. Solly ◽  
P. V. Nelson ◽  
A. N. Pollard ◽  
P. C. Sharp ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Genomic Dna ◽  
Protein Deficiency ◽  
Bifunctional Protein

scholarly journals Prenatal diagnosis of peroxisomal d-3-hydroxyacyl-CoA dehydratase / d-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency

1999 ◽  
Vol 44 (3) ◽  
pp. 143-147 ◽  
Author(s):  
Y. Suzuki ◽  
Zhongyi Zhang ◽  
Nobuyuki Shimozawa ◽  
Masami Muro ◽  
Hideaki Shono ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Protein Deficiency ◽  
Bifunctional Protein ◽  
Hydroxyacyl Coa Dehydrogenase

scholarly journals Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Lili Zhou ◽  
Zhaoke Zheng ◽  
Yunzhi Xu ◽  
Xiaoxiao Lv ◽  
Chenyang Xu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Correct Diagnosis ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Rescue Mechanism

Abstract Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples and explored the molecular characteristics and prenatal phenotypes of UPD using a single nucleotide polymorphism (SNP) array. Results Out of the 4512 samples, a total of seven cases of UPD were detected with an overall frequency of 0.16%. Among the seven cases of UPD, two cases are associated with chromosomal aberrations (2/7), four cases (4/7) had abnormal ultrasonographic findings. One case presented with iso-UPD (14), and two case presented with mixed hetero/iso-UPD (15), which were confirmed by Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as maternal UPD (15) associated with Prader-Willi syndrome (PWS). Four cases had iso-UPD for chromosome 1, 3, 14, and 16, respectively; this is consistent with the monosomy rescue mechanism. Another three cases presented with mixed hetero/isodisomy were consistent with a trisomy rescue mechanism. Conclusion The prenatal phenotypes of UPD are variable and molecular analysis is essential for making a correct diagnosis and genetic counselling of UPD. The SNP array is a useful genetic test in prenatal diagnosis cases with UPD.

scholarly journals Heterozygous mutations inHSD17B4cause juvenile peroxisomal D-bifunctional protein deficiency

2016 ◽  
Vol 2 (6) ◽  
pp. e114 ◽  
Author(s):  
David J. Amor ◽  
Ashley P.L. Marsh ◽  
Elsdon Storey ◽  
Rick Tankard ◽  
Greta Gillies ◽  
...  
Keyword(s):  
Protein Deficiency ◽  
Bifunctional Protein

D-bifunctional protein deficiency, a novel mutation

2015 ◽  
Vol 06 (04) ◽  
pp. 357-360
Author(s):  
Rania Dib ◽  
Pascale Karam ◽  
Mohamad Mikati ◽  
Steven Steinberg ◽  
Mohamad Habbal
Keyword(s):  
Novel Mutation ◽  
Protein Deficiency ◽  
Bifunctional Protein

Molecular analysis of the neurogenic locus mastermind of Drosophila melanogaster.

Genetics ◽  
1988 ◽  
Vol 118 (3) ◽  
pp. 483-497
Author(s):  
B Yedvobnick ◽  
D Smoller ◽  
P Young ◽  
D Mills
Keyword(s):  
Molecular Analysis ◽  
Genomic Dna ◽  
Transcriptional Activity ◽  
Chromosome Breakage ◽  
P Element ◽  
Minimal Size ◽  
Position Effects ◽  
P Elements ◽  
Preliminary Study ◽  
Element Sequence

Abstract The neurogenic loci comprise a small group of genes which are required for proper division between the neural and epidermal pathways of differentiation within the neuroectoderm. Loss of neurogenic gene function results in the misrouting of prospective epidermal cells into neuroblasts. A molecular analysis of the neurogenic locus mastermind (mam) has been initiated through transposon tagging with P elements. Employing the Harwich strain as the source of P in a hybrid dysgenesis screen, 6000 chromosomes were tested for the production of lethal mam alleles and eight mutations were isolated. The mam region is the site of residence of a P element in Harwich which forms the focus of a chromosome breakage hotspot. Hybrid dysgenic induced mam alleles elicit cuticular and neural abnormalities typical of the neurogenic phenotype, and in five of the eight cases the mutants appear to retain a P element in the cytogenetic region (50CD) of mam. Utilizing P element sequence as probe, mam region genomic DNA was cloned and used to initiate a chromosome walk extending over 120 kb. The physical breakpoints associated with the hybrid dysgenic alleles fall within a 60-kb genomic segment, predicting this as the minimal size of the mam locus barring position effects. The locus contains a high density of repeated elements of two classes; opa (CAX)n and (dC-dA)n.(dG-dT)n. A preliminary study of the transcriptional activity of the mam region is presented.

Prenatal diagnosis of two rarede novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis

10.1002/pd.79 ◽  
2001 ◽  
Vol 21 (6) ◽  
pp. 484-487 ◽  
Author(s):  
Voula Velissariou ◽  
Thalia Antoniadi ◽  
Philippos Patsalis ◽  
Stavroula Christopoulou ◽  
Athina Hatzipouliou ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Y Chromosome ◽  
Molecular Analysis ◽  
Structural Aberrations
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