Gene: [03q21/TF] transferrin (iron-binding serum glycoprotein); alcohol abuse-depended liver dysfunction (predisposition?);
|
SUM |
[1] Transferrin (TF) is an iron transporting glycoprotein that is
included in the group of serum beta-globulins. It is synthesized
primarily in hepatocytes (although it is found in measurable amounts
in fetal myocytes, glial oligodendrocytes, and activated T
lymphocytes) as a single-chain polypeptide with MM 77 kD. Up to 20
normal allele variants and at least 5 main isoforms of TF, which
differ in the extent of glycosylation and sialation, are known.
[2] The data exist (Vesterberg &: Clin Chim Acta, 141, 33-39, 1984) that in the alcoholic deterioration of liver, the proportion of a minor isoform (a low-sialated one with pI=5.7) in blood flow is significantly increased to 9% compared to 2.4% (=70 mg/l of serum) of the total TF level in normal individuals; this is considered as a good diagnostic marker for aerly alcoholic dysfunction of liver (Petren-1989). [3] Unstable TF variants have been described. One of them was found in a patient with the clinical picture of acrocephalosyndactyly (Evans-1982, Young-1984)." |
|
GEN |
The gene length is 33.5 kb. Exons: 17. Introns: 16. |
|
PSG |
GEM:03^/TFP. |
|
POL |
[1] Gene-specific DNA probe TF66G2 (a 1 kb fragment) has been cloned
at PstI site in the plasmid pBR322.
-----------------------------
RFLP systems:
----------------------------------------------------------------------
RFLP name (Reference; Probe [number]):
Alleles in kb/(Popul Freq) Const Bands (kb)
----------------------------------------------------------------------
[1] PstI A-RFLP (Huerre-1984; Uzan-1984; Probe [1]): A1= 2.0/(0.04); A2= 2.2/(0.96); CBs= 7.8/2.7/2.5/0.7; [2] HindIII B-RFLP (Huerre-1984; Uzan-1984; Probe [1]): B1= 6.3/(?); B2= 4.2/(?); CBs= 3.6/3.0" |
|
REL |
GEM:03p21/LTF; GEM:03q29/TFRC |
|
REF |
GEN,SEQ,MOP "Adrian GS &: Gene, 49, 167-175, 1986 PEP,STR,FUN "Bailey &: Biochemistry, 27, 5804-5812, 1988 LOC,MOL "Baranov VS &: Chromosoma, 96, 60-66, 1987 LOC,MOL "Baranov VS &: Genetika, 20, N10, 1584-1593, 1984 LOC,LIN "Eiberg &: CCG, 37, (HGM7), 461, 1984 PAT,PHE,FOG,MEB "Evans &: Biochem J, 201, 19-26, 1982 PRO,POL,MOL,LOC "Huerre C &: Ann Genet, 27, 5-10, 1984 EVO,MOL "Le Paslier &: Biochem Syst Ecol, 13, N2, 207-212, 1985 GEN,SEQ,MOP "Lucero MA &: NAR, 14, 8692, 1986 FUN,PEP,SEQ,MOP,EVO "MacGillivray RTA &: PNAS, 79, N8, 2504-2508, 1982 LOC,LIN "McAlpine PJ &: CCG, 46, (HGM9), 659, 1987 LOC,MOL "McGill &: Mammal Chrom Newslet, 25, N1-2, 20, 1984 LOC,LIN "Naylor &: AJHG, 32, A158, 1980 GEN,SEQ,MOP "Park I &: PNAS, 82, N10, 3149-3153, 1985 PEP,STR,FUN "Petren, Vesterberg: BBA, 994, 161-165, 1989 LOC,LIN "Robson EB &: Ann Hum Genet, 29, 325-336, 1966 EXP,TRC,ENG "Schaeffer E &: JBC, 264, N13, 7153-7160, 1989 GEN,SEQ,MOP "Schaeffer E &: Gene, 56, 109-116, 1987 CLO,SEQ,EXP,POL,MOL "Uzan G &: BBRC, 119, N1, 273-281, 1984 CLO,SEQ,EXP,LOC,MOL "Yang F &: PNAS, 81, (May), 2752-2756, 1984 PAT,PHE,FOG,MEB "Young &: Brit J Haematol, 56, 581-587, 1984 LOC,MOL "Zelinski T &: Hum Hered, 37, 1-6, 1987 |
|
KEY |
hem, trp, serp, ion, neu, git |
|
CLA |
coding, basic |
|
LOC |
03 q21 |
|
MIM |
MIM: 190000 |
Смотрите также:
