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At least 919 records · Page 51Linked to original sources
PubMed1995

Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity.

Hb Puttelange [beta 140(H18)Ala-->Val] was found as a de novo mutation in two siblings of a French family suffering from polycythemia. Both parents were phenotypically normal and exclusion of paternity has been ruled out by the study of several polymorphic markers located on different chromosomes. The structural modification of Hb Puttelange was established by reversed-phase HPLC analysis of the tryptic digest of the abnormal chain. The amino acid composition of an abnormal beta T14 peptide revealed that one of the four residues of Ala was replaced by a Val. Tandem mass spectrometry demonstrated that the substitution concerned position beta 140 (H18). This hemoglobin displays an increased oxygen affinity that is responsible for the polycythemia. De novo mutations, as demonstrated again in the case of this variant, have the highest probabilities of detection when they lead to pathological manifestations. They may result either from a somatic mutation in a very early stage of the embryological development of the propositus or may have a parental origin with occurrence of a germline mosaicism. The study of the beta-globin gene indicated that this case of Hb Puttelange probably arose from a mutation affecting a part of the germline of the father, therefore leading to a true recurrence risk.

Adult↗
PubMed1993

Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.

Familial hypercholesterolemia (FH) is caused by different mutations in the gene encoding the low density lipoprotein receptor (LDLR). In Caucasian patients, at least three single point mutations have been identified causing FH. The asparagine206 to glutamine, and valine408 to methionine mutations were originally described in Afrikaners and recently identified in Dutch FH patients. The proline664 to leucine mutations was previously identified in an FH homozygote of Asian Indian origin and later identified in patients from London. Any of these mutations can be identified using direct amplification of genomic DNA by the polymerase chain reaction (PCR) and restriction enzyme digestion of PCR products. In this study, 100 unrelated German FH patients were screened for these three mutations. The valine408 to methionine mutation was identified in one individual and subsequently in the hypercholesterolemic child of the proband. Haplotype analysis with 7 restriction fragment length polymorphisms (RFLPs) revealed that the mutant allele carried the same haplotype as the previously described patients in South Africa and the Netherlands. Our finding supports the previous assumption of the European origin of the mutation.

Adolescent↗