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The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20.

par Abrahamson, M;Islam, Mozaffarul Quamrul;Szpirer, Josiane ;Szpirer, Claude ;Levan, Göran
Référence Human genetics, 82, 3, page (223-226)
Publication Publié, 1989-06

Article révisé par les pairs

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Résumé :

Hereditary cystatin C amyloid angiopathy has recently been shown to be caused by a point mutation in the cystatin C gene. To determine the chromosomal localization of the gene, 20 human-rodent somatic cell hybrids and a full-length cystatin C cDNA probe were used. Southern blot analysis of BamHI digested cell hybrid DNA revealed that the probe recognizes a 10.6 kb human specific fragment and that this fragment cosegregates with human chromosome 20. Therefore, the human cystatin C gene (CST3) was assigned to chromosome 20.