PMID- 10211631
OWN - NLM
STAT- MEDLINE
DCOM- 19990525
LR  - 20190905
IS  - 0009-9120 (Print)
IS  - 0009-9120 (Linking)
VI  - 32
IP  - 2
DP  - 1999 Mar
TI  - A novel in-frame deletion mutation in a case of lactate dehydrogenase (LD) H
      subunit deficiency showing an atypical LD isoenzyme pattern in serum and
      erythrocytes.
PG  - 137-41
AB  - OBJECTIVE: We report a case showing an atypical lactate dehydrogenase (LD)
      isoenzyme pattern involving deficiency only of LD-1 and LD-2 in serum and
      erythrocytes. LD activity in serum from this patient was extremely low, similar
      to complete LD-H deficiency, and also that in erythrocytes was low. DESIGN: The
      DNA fragment containing exon 1 through 7 of the LD-H gene were amplified by PCR
      and directly sequenced. Total RNA was prepared from venous blood and the
      proportion of LD-H cDNA to total LD cDNA was semiquantified. RESULTS: Genetic
      analysis by DNA sequencing detected a three base deletion (AAT) at codon 220 of
      exon 5, which caused a deletion of one asparagine. The present case did not show 
      reduced LD-H expression at the mRNA level in whole blood. Residue 220 is involved
      in turning beta-J to alpha1-G and is not buried in the interior of the protein.
      The novel homozygous in-frame deletion mutation at codon 220 may cause a
      three-dimensional change of the subunit-binding domain.
FAU - Sudo, K
AU  - Sudo K
AD  - Department of Laboratory Medicine, Jikei University, Daisan Hospital, Komae City,
      Tokyo, Japan. kayosudo@jikei.ac.jp
FAU - Maekawa, M
AU  - Maekawa M
FAU - Houki, N
AU  - Houki N
FAU - Okuda, T
AU  - Okuda T
FAU - Akizuki, S
AU  - Akizuki S
FAU - Magara, T
AU  - Magara T
FAU - Kawano, K
AU  - Kawano K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Clin Biochem
JT  - Clinical biochemistry
JID - 0133660
RN  - 0 (Isoenzymes)
RN  - EC 1.1.1.27 (L-Lactate Dehydrogenase)
SB  - IM
MH  - Adult
MH  - Erythrocytes/*enzymology
MH  - Humans
MH  - Isoenzymes/deficiency/genetics
MH  - L-Lactate Dehydrogenase/blood/*deficiency/*genetics
MH  - Male
MH  - *Sequence Deletion
RF  - 8
EDAT- 1999/04/22 00:00
MHDA- 1999/04/22 00:01
CRDT- 1999/04/22 00:00
PHST- 1999/04/22 00:00 [pubmed]
PHST- 1999/04/22 00:01 [medline]
PHST- 1999/04/22 00:00 [entrez]
AID - S0009-9120(98)00097-6 [pii]
AID - 10.1016/s0009-9120(98)00097-6 [doi]
PST - ppublish
SO  - Clin Biochem. 1999 Mar;32(2):137-41. doi: 10.1016/s0009-9120(98)00097-6.