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A hereditary abnormality of the metabolism of glutathione in the red blood cells*

Published online by Cambridge University Press:  01 August 2014

A. Szeinberg
Affiliation:
Tel Hashomer Hospital, Israel
Ch. Sheba
Affiliation:
Tel Hashomer Hospital, Israel
A. Adam
Affiliation:
Tel Hashomer Hospital, Israel
Bracha Ramot
Affiliation:
Tel Hashomer Hospital, Israel

Summary

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The frequency of a hereditary abnormality of erythocytes characterised by a deficiency in glucose 6 phosphate dehydrogenase and glutathione instability, has been investigated in various population groups in Israel. The highest frequencies of this abnormality have been detected among Jews from Kurdistan, Iraq and Persia. It is also relatively common in other oriental (sefardic) Jewish communities, as well as among Arabs, desert Bedouins and Druses.

Up to now only one case of this erythrocyte defect has been found among Jews of Ashkenazic origin. The same abnormality has also been found in a Sikh from Punjab.

The hereditary pattern of transmission and evidences of sex linkage are presented. The problem of expressivity of the abnormal gene in heterozygous females is discussed.

Riassunto

RIASSUNTO

Ricerche sono state effettuate in vari gruppi etnici in Israele sulla frequenza di un difetto ereditario degli eritrociti, caratterizzato da deficienza in glucosio-6-fosfato deidrogenasi e da un'istabilità del glutatione stesso.

La più alta frequenza di questa anomalia è presente negli Ebrei provenienti dal Kurdistan, dall'Iraq e dalla Persia. È pure relativamente comune tra le altre comunità ebraiche orientali (sefarditi), come pure tra Arabi, Beduini e Drusi.

Per conoscenza, soltanto un caso di questo difetto eritrocitario è stato trovato tra Ebrei di origine non orientale (Askenaziti). La stessa anormalità era presente pure in un Sikh del Punjab.

Si presentano in questo lavoro lo schema genetico di trasmissione e l'evidenza di un « sex-linkage ». Si discute pure il problema dell'espressività del gene anormale in individui di sesso femminile eterozigoti.

Résumé

RÉSUMÉ

La fréquence d'une anomalie héréditaire des érythrocytes, caractérisée par une déficience en glucose 6-phosphate déhydrogenase et en une instabilité du glutathion a été étudiée dans les divers groupes ethniques en Israel. La fréquence la plus élevée de cette anomalie a été constatée parmi les Juifs originaires du Kurdistan, del'Iraq et de Perse. Elle est aussi relativement fréquente parmi les Juifs provenants d'autres communautés orientales (Séphardiques) et également parmi les Arabes, les Bédouins du désert et les Druses.

Jusqu'à présent un seul cas de cette anomalie érythrocytaire a été trouvé chez un juif d'origine Ashkénaze. La même anomalie a été trouvée chez un Sikh de Punjab.

La mode de transmission héréditaire et l'évidence de liaison au sexe sont présentés.

Sont discutés également les problèmes de l'expressivité du gène anormal dans les femelles hétérozygotes.

Zusammenfassung

ZUSAMMENFASSUNG

Die Haeufigkeit einer erblichen Anomalie der roten Blutkoerperchen, bestehend in einem Mangel an Glucose-6-Phosphate-Dehydrogenase und einer fehlenden Stabilitaet des Glutathions, wurde in verschiedenen Bevoelkerungsgruppen in Israel untersucht. Die groesste Haeufigkeit dieser Anomalie wurde unter Juden aus Kurdistan, Iraq und Persien angetroffen. Die Anomalie ist auch relative haeufig unter anderen orientalischen (Sefardischen) Juden, als auch unter Arabern, Wuesten-Beduinen und Drusen.

Bis her wurde nur ein einziger Fall dieses Ery trocytendefects unter Juden Ashkenazischen Ursprunges vorgefunden. Die gleiche Anomalie wurde auch in einem Sikh aus Punjab beobachtet.

Die Vererbungsgesetze und der Nachweis einer Geschlechtsbedingung dieser Anomalie wurden beschrieben. Die Frage der Erscheinungsform des abnormalen Genes in heterozygoten Frauen wird diskutiert.

Type
Research Article
Copyright
Copyright © The International Society for Twin Studies 1959

Footnotes

*

This investigation has been supported by the Rockefeller Foundation.

References

1 Subjects, whose erythrocyte GSH fell below 30mg/100 cc RBC during incubation with acetylphenylhydrazine.

2 Subjects whose erythrocyte GSH fell below 30mg/100 cc RBC during incubation with acetylphenylhydrazine.

3 GSH mg/100 cc RBC after incubation with acetyphenylhydrazine.

4 Glucose 6 phosphate dehydrogenase activity in units/1cc RBC/min.

5 The activity of the glucose 6 phosphate dehydrogenase was estimated by the increase of optical density at 340mM of a mixture which contained tris buffer, hemolyzate incubated previously for 60 minutes at 37°, glucose 6 phosphate, triphosphopyridine nucleotide and MgCl2.

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