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

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2007 (EN)
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.,

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)




Hellenic Society of Gastroenterology (EN)

Annals of Gastroenterology; Volume 14, No 4 (2001) (EN)

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