作者: C. Danesino , Alessandra D'Azzo , Paola Maraschio , M. Fraccaro
DOI: 10.1007/BF00278837
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摘要: Gene dosage effect for the enzyme peptidase A was studied in red cells of subjects trisomic (seven cases) or monosomic (five segment chromosome 18 carrying gene. The individual levels activity both groups were differen from those controls, but with a wide overlap. use ratio each subject to midparent eliminated overlapping. mean 0.94 2.36 trisomics, and 0.41 monosomics. is higher than expected on assumption linear effect. Correlation cytogenetic data four cases ring one 18q- firmly places gene band 18q23.