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Hb FM‐Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing
Author(s) -
Hain Richard D. W.,
Chitayat David,
Cooper Robert,
Bandler Elizabeth,
Eng Barry,
Chui David H. K.,
Waye John S.,
Freedman Melvin H.
Publication year - 1994
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380030310
Subject(s) - biology , inheritance (genetic algorithm) , genetics , nucleotide , dna sequencing , gene
We describe a normal neonate who presented at four days of age with asymptomatic cyanosis. There was no evidence of cardiac or pulmonary abnormality and an extended family history included 13 other affected family members with asymptomatic cyanosis lasting one to three months. Polymerase chain reaction (PCR) amplification and direct nucleotide sequencing of the proband's Gγ chain gene revealed the mutation at codon 92 (CAC→TAC) previously shown in haemoglobin FM‐Fort Ripley (α 2 γ 2 Gγ 92 (F8) His→Tyr ). This is the first family with Hb FM‐Fort Ripley reported so far. It demonstrates autosomal dominant inheritance of this condition and incomplete penetrance. © 1994 Wiley‐Liss, Inc.