Journal List Am J Hum Genet Volume 48(5); 1991 May Logo of ajhg Volume 48(5); 1991 May The cover of the journal Cover page PDF.695K Research on DNA typing catching up with courtroom application. E S Lander Am J Hum Genet. 1991 May; 48(5): 819.823. PMCID: PMC1683053 Summary Page Browse PDF.800KCite The efficiency of multilocus DNA fingerprint probes for individualization and establishment of family relationships, determined from extensive casework. A J Jeffreys, M Turner, P Debenham Am J Hum Gene

To analyze the genetic abnormality in a Japanese patient with adult-type metachromatic leukodystrophy (MLD), we first elucidated the genomic organization of the human arylsulfatase A (ASA) gene and then compared the nucleotide sequences of exons and splice junctions of the mutant ASA gene to those of a normal control.We have identified a new mutation, a G-to-A transition in exon 2, which results in amino acid substitution of Asp for 99Gly.In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD.