1. Αρχική σελίδα
  2. Αναζήτηση

Are ABL and MTP markers at chromosome 4Q28 of patients with abetalipoproteinemia really the same loci?

Το τεκμήριο παρέχεται από τον φορέα :
Ελληνική Γαστροεντερολογική Εταιρία   

Αποθετήριο :
Annals of Gastroenterology   

δείτε την πρωτότυπη σελίδα τεκμηρίου
στον ιστότοπο του αποθετηρίου του φορέα για περισσότερες πληροφορίες και για να δείτε όλα τα ψηφιακά αρχεία του τεκμηρίου*



Are ABL and MTP markers at chromosome 4Q28 of patients with abetalipoproteinemia really the same loci? (EN)
Neou P.,
Triantafillidis J.,
Zervou F.,
Cheracakis P.,
Kottaras G.,
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
2007-03-19
SUMMARY Background: ᢥtalipoproteinemia is an extremely rare genetic disorder of lipoprotein metabolism, associated with various biochemical abnormalities, combined with clinical malabsorption. The cause of the disease is considered to be mutations in the Microsomal Triglyceride Protein gene. Purpose: The aim of this study was to see if the locus Microsomal Triglyceride Protein and ABL are identical in patients with ᢥtalipoproteinemia. Another aim was to provide information concerning the patient's karyotype. Subjects-Methods: The study included seven persons: 3 patients (a girl and two boys aged 32, 30 and 22 years respectively) and their 4 healthy, first-degree relatives (two parents, a brother and a sister). Three chromosome markers (fibrinogen alpha at 4 q 28 (FGA), Gc and MNSs blood groups) were tested. Cytogenetic studies were performed on PHA stimulated peripheral blood cell cultures. Results: Fibrinogen-alpha chromosome marker at 4 q 28 showed absolute correlation in all three patients by inheritance of the same maternal and paternal FGA alleles, whereas the healthy siblings had other allelic constellations. The Gc and MNSs genes were not informative. The karyotype of patients and healthy members of the family was normal. Conclusion: It is concluded that ABL and MTP (at 4 q 22-24) are probably identical loci and should eliminate further on one designation. The karyotype of patients with abetalipoproteinemia is normal. Key Words: MTP gene, ?etalipoproteinemia, Greece, Mutations, Chromosomes, Microsomal Transfer Protein (EN)
Αγγλική γλώσσα
Hellenic Society of Gastroenterology (EN)
1792-7463
1108-7471
Annals of Gastroenterology; Volume 14, No 4 (2001) (EN)
Ελληνική Γαστροεντερολογική Εταιρία
Annals of Gastroenterology
Original Articles



*Η εύρυθμη και αδιάλειπτη λειτουργία των διαδικτυακών διευθύνσεων των συλλογών (ψηφιακό αρχείο, καρτέλα τεκμηρίου στο αποθετήριο) είναι αποκλειστική ευθύνη των αντίστοιχων Φορέων περιεχομένου.