Biomaterial Database

Intermediate alpha1-antitrypsin deficiency, Pi M-. 1978

C Larsson

A 50-year-old man was found to have 40% of the normal serum alpha1-antitrypsin concentration but subsequent electrofocusing showed a pattern indistinguishable from the ordinary M pattern. This finding and family studies suggested that he was a carrier of a null (-) allele. Heavy smoking and this Pi M- phenotype in interaction probably were responsible for the development of emphysema, documented by an extensive investigation of lung function. Two non-smoking offspring carrying the null allele had normal lung function. Normal karyotypes were found in all the Pi M- subjects.

UI	MeSH Term	Description	Entries
D008176	Lung Volume Measurements	Measurement of the amount of air that the lungs may contain at various points in the respiratory cycle.	Lung Capacities,Lung Volumes,Capacity, Lung,Lung Capacity,Lung Volume,Lung Volume Measurement,Measurement, Lung Volume,Volume, Lung
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D011656	Pulmonary Emphysema	Enlargement of air spaces distal to the TERMINAL BRONCHIOLES where gas-exchange normally takes place. This is usually due to destruction of the alveolar wall. Pulmonary emphysema can be classified by the location and distribution of the lesions.	Emphysema, Pulmonary,Centriacinar Emphysema,Centrilobular Emphysema,Emphysemas, Pulmonary,Focal Emphysema,Panacinar Emphysema,Panlobular Emphysema,Pulmonary Emphysemas,Centriacinar Emphysemas,Centrilobular Emphysemas,Emphysema, Centriacinar,Emphysema, Centrilobular,Emphysema, Focal,Emphysema, Panacinar,Emphysema, Panlobular,Emphysemas, Centriacinar,Emphysemas, Centrilobular,Emphysemas, Focal,Emphysemas, Panacinar,Emphysemas, Panlobular,Focal Emphysemas,Panacinar Emphysemas,Panlobular Emphysemas
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults