ABCMdb

PMID: 19660195

Wang Z, Ke L, Xie H, Yan A, Huang L, Lan F
Pre-symptomatic molecular diagnosis of X-linked adrenoleukodystrophy in Chinese families.
Neurol Res. 2010 Sep;32(7):695-9. Epub 2009 Aug 5., [PubMed]

Sentences

No. Mutations Sentence Comment

29 ABCD1 p.Gly343Val Proband 1 was diagnosed with cerebral X-ALD at the age of 11 years, and G343V mutation was identified in the ABCD1 gene of him and his mother in our laboratory. Login to comment 32 ABCD1 p.Ala141Thr DNA analysis on the proband`s mother in our laboratory found that she was an X-ALD heterozygote with A141T mutation. Login to comment 39 ABCD1 p.Ala141Thr ABCD1 p.Gly343Val Fragments that covered the G343V mutation (Pedigree 1), A141T mutation (Pedigree 2) or fsGlu471 mutation (Pedigree 3) of the ABCD1 gene were amplified with the primers listed in Table 1. Login to comment 43 ABCD1 p.Gly343Val Restrictive digestion Mutation G343V gives rise to an additional Eco47 I restriction site within the corresponding segment amplified, which allows for the application of restriction fragment length polymorphism (RFLP) analysis to reveal the mutation. Login to comment 51 ABCD1 p.Gly343Val Results Restrictive analysis and DNA sequencing in Pedigree 1 In restriction analysis with endonuclease Eco47 I digestion, the digestion pattern of Subject 1 was found to be identical to that of Proband 1 (Figure 1A), which indicated that both carried the same mutation G343V (GGCRGTC). Login to comment 54 ABCD1 p.Ala141Thr DNA sequencing of the corresponding PCR products confirmed the existence of A141T mutation (GCCRACC) in Subjects 2 and 3 (Figure 2B,C) and fsGlu471 mutation (del AG) in Subject 4 (Figure 3B,C). Login to comment 63 ABCD1 p.Ala141Thr ABCD1 p.Gly343Val In Pedigree 1, the mutation found in Subject 1 (G343V) was a novel mutation identified in our laboratory16 , while the mutation found in Subjects 2 and 3 (A141T) of Pedigree 2 and the mutation found in Subject 4 (fsGlu471) of Pedigree 3 have been identified by other authors as pathogenic mutations. Login to comment 67 ABCD1 p.Ala141Thr (B and C) DNA sequence of Subject 2 (B) and Subject 3 (C) confirmed that they were both affected with A141T mutation (GCCRACC). Login to comment 72 ABCD1 p.Gly343Val (B) DNA sequencing confirmed the G343V mutation (GGCRGTC) in Subject 1. Login to comment