Alexander G. Bearn

Haptoglobin and transferrin variation in humans and primates: two new transferrins in Chinese and Japanese populations

1. Haptoglobin and transferrin gene frequencies have been determined for Chinese, Japanese, New York City Negro, Sapelo Negro, and Eskimo populations.

Autosomal trisomy of a group 16–18 chromosome

Summary The clinical and chromosomal findings in 2 infants with multiple congenital anomalies are presented. The combination of abnormalities of ear, chin, hands, heart, and nervous system together with the presence of an extra chromosome of Group 16–18 identify the patients as examples of a newly recognized rare trisomic syndrome first described by Edwards 3 and by Patau 2,4 and their colleagues.

Alterations in Sialic Acid Content of Human Transferrin

Starch gel electrophoresis of human transferrin treated with neuraminidase revealed a pattern of five bands whose intensities varied with neuraminidase concentration. Sialic acid analysis after starch block electrophoresis suggested that the bands represented the stepwise removal of sialic acid from the transferrin molecule. Evidence was also obtained for the purification of a particular genetic transferrin variant

Haptoglobin and Transferrin Gene Frequencies in a Navajo Population: A New Transferrin Variant

The distribution of serum haptoglobin, transferrin, and ceruloplasmin has been studied by starch gel electrophoresis for a Navajo Indian population in Arizona. Only the three common haptoglobin phenotypes were observed, but a high percentage of a new faster-moving transferrin variant B0-1 was discovered. No unusual ceruloplasmins were found.

SITE OF FORMATION OF THE GROUP-SPECIFIC COMPONENT AND CERTAIN OTHER SERUM PROTEINS.

Summary In vitro studies using C14 isoleucine and C14 lysine indicate that the liver is the site of synthesis of the group-specific component. The possibility that the a2 macro-globulin may bind proteins synthesized in various tissues is discussed. Synthesis of certain additional serum proteins in other human

Application of genetic regulatory mechanisms to human genetics.

Abstract Mutational events in human genetics are considered in terms of regulatory mechanisms ininvolving control genes and structural genes in the genetic material. Specific models, developed in bacterial genetics, are applied to antibody formation and to the glucose-6-phosphate dehydrogenase, haptoglobin and hemoglobin systems in man.

Additional genetic variation of human serum transferrin.

A new molecular species of human transferrin, Tf

Gaucher's Disease: A Genetic Disease Detected in Skin Fibroblast Cultures

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