Tuesday, May 28, 2013

Molecular Bases of EDS ... (1)


The progress of the Human Genome Project and other advances in molecular genetics has provided much information regarding the molecular basis of Ehlers-Danlos syndrome. Physical positions of respective genes and their locations on chromosomal maps are as follows:

Molecular Bases of EDS


Type
Protein
Abnormality
Gene
Abnormality
Chromosome
Locus
Classic
Type V collagen
COL5A1
COL5A2
9q34.2-34.3
2q31
Hypermobility
Unknown
Unknown
Unknown
Vascular
Type III collagen
COL3A1
2q31
Kyphoscoliosis
Lysyl hydroxylase deficiency
PLOD1
1p36.3-36.2
Arthrochalasia
Type I collagen
COL1A1
COL1A2
17q31-22.5
7q22.1
Dermatosparaxis
N-proteinase
ADAMST2
5q23-24


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