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Dermatoglyphic Studies in Patients with Cooley's Anemia and Cooley's Trait

Published online by Cambridge University Press:  01 August 2014

B. Dallapiccola ,
L. Capra ,
O. Baricordi  and
C. Mazzilli
B. Dallapiccola
Affiliation:
Department of Medical Genetics, University of Rome, Italy
L. Capra
Affiliation:
Department of Medical Genetics, University of Rome, Italy
O. Baricordi
Affiliation:
Department of Medical Genetics, University of Rome, Italy
C. Mazzilli
Affiliation:
Department of Medical Genetics, University of Rome, Italy

Abstract

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The dermatoglyphic analysis of a group of Italian patients with Cooley's anemia and Cooley's trait shows Cooley's anemia patients to undergo a significant increase of loops on fingers and a corresponding decrease of whorls. The total loops frequency correlates negatively with the ridge distribution per loop and the total ridge count is significantly decreased. The atd angles are larger. Minor changes in the distribution of patterns in the thenar and hypothenar areas are also observed. In the Cooley's trait patients, loops on fingers are more frequent than in controls, but no difference with Cooley's anemia series is observed. The above findings suggest that the gene(s) controlling loops formation in linkage disequilibrium with thalassemia mutant may have been favourably selected on the “thalassemia chromosome” in the malaria environment.

Riassunto

RIASSUNTO

L'analisi dermatoglifica in un gruppo di pazienti italiani con morbo di Cooley e con trait talassemico indica, nei pazienti con morbo di Cooley, un significativo aumento delle configurazioni ad ansa sui polpastrelli ed una riduzione dei vortici. La frequenza complessiva delle anse correla negativamente con la distribuzione del numero delle creste per ansa. Il conteggio totale delle creste è ridotto in maniera significativa. Gli angoli atd sono significativamente piú ampi rispetto ai controlli ed ai soggetti con trait talassemico, in entrambi i sessi. Sono state evidenziate anche alcune differenze nella distribuzione dei disegni sul tenar e sull'ipotenar. Nei pazienti con trait talassemico la frequenza delle anse appare significativamente aumentata rispetto alia popolazione di controllo, ma non ai pazienti con morbo di Cooley. Queste osservazioni suggeriscono che il gene o i geni che controllano la formazione delle anse, in linkage disequilibrium con il mutante talassemico, siano stati selezionati sul cromosoma che porta il mutante per la talassemia nell'area malarica dalla quale provengono i pazienti esaminati.

Résumé

RÉSUMÉ

L'analyse dermatoglyphique chez des sujets italiens atteints de maladie de Cooley ou de trait thalassémique indique chez les patients de maladie de Cooley une augmentation significative de boucles et une réduction de tourbillons sur les doigts. La fréquence complexive des boucles est négativement corrélée avec la distribution du nombre de crêtes par boucle. Le nombre total des crêtes est significativement réduit. Les angles atd sont significativement plus larges par rapport aux contrôles et aux sujets avec trait thalassémique chez les deux sexes. Quelques différences dans la distribution des dessins sur les aires thénar et hypothénar ont aussi bien été remarquées. Chez les patients avec trait thalassémique la fréquence des boucles paraît significativement augmentée par rapport à la population de contrôle, mais pas par rapport aux sujets avec maladie de Cooley. Ces observations suggèrent que le gène ou les gènes qui contrôlent la formation des boucles en linkage mais pas en équilibre avec le mutant thalassémique, aient été sélectionnés sur le chromosome qui porte le mutant pour la thalassémie dans la région malarique de laquelle provient le sujet.

Zusammenfassung

ZUSAMMENFASSUNG

Bei einer Reihe italienischer Patienten mit Cooley-Anämie oder mit Thalassämie-Trait wurden Hautleistenuntersuchungen vorgenommen. Bei den Pat. mit Cooley-Anämie wurden folgende Beobachtungen gemacht: an den Fingerspitzen erheblicher Anstieg der Schleifenbildung und Verminderung der Wirbel; das Gesamtvorkommen der Schleifen steht in negativem Verhältnis zur Verteilung der Hautleistenzahl pro Schleife; die Zahl der Hautleisten insgesamt ist bedeutend vermindert; die atd-Winkel sind bei beiden Geschlechtern breiter als bei den Kontrollpersonen oder den Pat. mit Thalassämie-Trait; auch die Verteilung der Hautzeichnungen am Thenar und Hypothenar weisen wesentliche Unterschiede auf. Bei den Pat. mit Thalassämie-Trait scheinen die Schleifen — im Vergleich zu den Kontrollpersonen, aber nicht zu den Pat. mit Cooley-Anämie — merklich häufiger zu sein. Diese Beobachtungen lassen vermuten, dass in der Malariagegend, aus der die untersuchten Pat. stammen, das Gen oder die Gene, die in linkage aber nicht im Gleichgewicht mit der Thalassämie-Mutante die Schleifenbildung kontrollieren, eine Selektion auf dem die Thalassämie tragenden Chromosom ausüben.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 24 , Issue 3-4 , 07-10 1975 , pp. 283 - 293
Copyright
Copyright © The International Society for Twin Studies 1975

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