HUM-MOLGEN archive: DIAG:

Note from the DIAGNOSTIC/CLINICAL RESEARCH editor: This DIAG message contains submessages: 1) Progeria case 2) STR exon 6 DMD gene ************************************************************************ HUM-MOLGEN COMPuters ************************************************************************ Hello, I'm sorry for the annoyance. One case of Progeria (Hutchinson-Gilford syndrome) was diagnosed in Matanzas, Cuba. There is familiar consanguinity, suggesting autosomal recessive inheritance. I need information about another case, treatment assays. Would you please send information at dpemt@infomed.cu Any information will be appreciate it. Reported by Dra. Elsa Luna Caballos Clinical Geneticist. Genetics Department of Matanzas, Cuba. Phon: 3371 E-mail: dpemt@infomed.cu ****************************************************************** Dear Colleagues, I am involved in counselling two families re DMD.In each case the sole affected male has an exon 6 deletion and the two mothers have normal CK values. We would like to clarify the mothers' carrier status using molecular means but we are limited by the lack of short tandem repeats close to exon 6 i.e. we cannot determine whether the mothers are hemizygous at that point in the DMD gene. Can anyone offer some help? Are there any unpublished STRs in this region of the DMD gene? Thanking you in anticipation, Yours sincerely, Graeme Suthers ---------------------------------------------------------------------- Dr Graeme Suthers tel (int)-61-8-204 7375 Department of Medical Genetics fax (int)-61-8-204 6088 Women's & Children's Hospital North Adelaide SA 5006 AUSTRALIA ---------------------------------------------------------------------- <<< email: gsuthers@medicine.adelaide.edu.au >>> ----------------------------------------------------------------------