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Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family
Author(s) -
Raybould M. C.,
Birley A. J.,
Moss C.,
Hultén M.,
McKeown C. M. E.
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb03990.x
Subject(s) - elastin , pseudoxanthoma elasticum , genetics , gene , allele , mutation , biology , medicine , pathology
An intragenic elastin Hint I polymorphism has been used to study the inheritance of elastin alleles in a family considered to show recessive inheritance of pseudoxanthoma elasticum (PXE). The marker has proved informative, excluding the elastin gene as a cause of PXE in this family. In addition, whole genomic human elastin clones were used in Southern analysis to screen the family for gross elastin gene rearrangements, but none were detected.