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Increased frequency of heterozygotes for alpha1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21

Fineman, R.M.; Kidd, K.K.; Johnson, A.M.; Breg, W.R.

Nature 260(5549): 320-321

1976

ISSN/ISBN: 0028-0836
PMID: 1082990
Document Number: 105863
There have been two reports1,2 of an association of alpha-l antitrypsin (α1AT) variants and sex chromosome mosaicism. The data suggest that decreased α1At activity, as found in individuals heterozygous or homozygous for α1At variants, gives rise to abnormal chromosome segregation during mitosis. We report here further data which support those previous studies and suggest that decreased α1At activity is also an aetiological factor in trisomy 21.

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