PGP (EC 3.1.3.18) POLYMORPHISM IN THE DUSSELDORF REGION.

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PGP (EC 3.1.3.18) Polymorphism in the Düsseldorf Region

W. HUCKENBECK, P. FREUDENSTEIN, W. BONTE, J.

BARZ

Institute of Forensic Medicine, Heinrich-Hcinc-University, Düsseldorf, FRG

DÜSSELDORF BÖLGESİNDE PGP POL1MORFlzMİ

Özet

Akrabalık ilişkileri bulunmayan ve Düsseldorf bölgesinde yaşayan 1582 Alman vatandaşının kanı

fosfoglikolat fosfataz (PGP) polimorfizmi açısından incelendi. 688 anne-çocuk çiftinin PGP fenotip dağılımı

belirlendi. Bu amaçla nişasta jel elektroforezi yönteminden yararlanıldı. PGP'nin gösterdiği PGP!, PGPı ve PGp3 allelleri nedeniyle 6 fenolipi bulunmaktadır. PGpSumatra ile tanımlanan ender alleli vePGpO sessiz alleli bulunur. Bulgulan sunulan çalışmada gözlenen fenotiplerin Hardy-Weinberg yasasına uyduğu saptandı. Gen

frekanslan ise PGp! .8606, PGPı .0964 ve PGp3 .0424 olarak hesaplandı. PGP kalıtımın otozomal kodominant şekilde olduğu kanıtlanan bu çalışmada, PGp3 frekansının Düsseldorf bölgesinde daha düşük bulunduğunu bildiren önceki araşıırmalan destekleyen sonuçlar elde edilemedi.

Summary

Blood samples from 1582 unrelated Gennan individuals in the Düsseldorf area were studied for

phosphoglycolate phosphatase (PGP) polymorphism. The number of the observed phenotypes did not diverge from the expected values (Hardy-Weinberg). The gene frequencies were calculated as:

PGP! .8606, PGP2 .0964, PGp3 .0424

The assumed autosomal codominant mode of inheritance was confirmed by the analysis of 688 mother-child data, incJuding 501 "criticaı" mother child pairs.

The assumption that there is a lower PGp3 frequency in the Düsseldorf area could not be confirmed. Several other PGP studies are discussed and compared.

Kcy words: Phosphoglycolate phosphatase - Polymorphism - Genefrequencies

INTRODUCTION

Phosphoglyeolate phosphatase (pGP) was first described

i

n plant tissues (1, 2).

In 1977 Badwey

(3)

described the enzyme aetivity in human crythroeytes.

it

remains

eoneeivab

l

e that PGP aetivity plays some part in the regulation

of

oxygen transfer to

and from haemoglobin (4,5). There is no evidenee to suggest

t

ha

t

different

eleetrophoretie variants of PGP are assoeiated with diffcrent levels of aetiv

it

y b

u

t

day-to-day variation in PGP aetivity even in the same individual has

been

reported (6).

(2)

140

w.

HUCKENBECK, P. FREUDENSTEIN, W. BONTE, J. BARZ

Th

e

r

esults

of

severa

l authors

ind

i

cate the

l

ocalizatio

n

of the gene fo

r

h

uman PGP

on th

e chromoso

me 16

(7-

9).

Six

phe

n

o

typ

es -

du

e

to

three ail

eles

PGP

1, PG

P

2 and PGP3- can be separated by

electrophores

i

s.

A

rare

a1l

ele

was described as PGpSumatra

(10).

Weber

(ll)

repofred

ab

out

a "s

i

lent" alle

l

e

PGP

o.

Close linkage betwccn PGP

and

th

e

marker

s

ABO,

acP,

ADA, PGM1, PGM3, G

L

O

and HLA

c

ou

ld

be rul

ed

out. Clo

se linkage

to other markers

could

not

be

proved

(12).

MATERIALS AND METHODS

Blood samples of

1582

unrelated and apparently healthy Germans living İn the Düsseldorf area were

investigatcd. 688 mothcr ehild rairs were aııalysed.

The PGP phenotypes were demonstratcd hy means of starch gel elcetrophoresis. The method wes deserihed by Barker and Hopkinson (13) and Marıin et al (14).

3-1

2-1

3-2

2 3-2

3

RESULTS

3-2

2

3 -2

3-2

Figurc L Isozyme patterns of PGP arter starch gel clcctrophoresis.

F

igure

1 shows the

zymogram

of phosphog

l

yco

l

a

t

e

p

h

o

s

p

h

atase

ar

t

er starch gel

elec

t

rophoresis.

The

patte

rn

s see

m

to

be

m

ore

indisıinct

th

an zymograms

o

f

o

t

her

enzymcs

-

similar

t

o

the

isozy

me

patterns o

f

GP

T

arter

s

tarch

ge

l

electro

pho

r

esi

s

.

However,

a

reliable

determ

i

natio

n

i

s

poss

ib

l

e.

Table

1 s

h

ows

the dist

ri

bution of phenotypes

in

ou

r s

tud

y.

Wc found a

good

agrcemcn

t

betwccn

the

observe

d a

nd

expected values

acc

ording

to

the

lI

ardy-Weinberg

law.

(3)

expected we did no

t

find any

moth

cr-chil

d

ex

clu

sio

n.

This

study

in

cludes

502

"criticaı"

mother

-chil

d

pairs.

In Table 3

we

combined this studyand the

study

of llenke et al

(15).

Now the

combined studies on POP

polymorphi

sm

in Düsseldorf

i

nclude 2

1

45 individuals.

I

n

Tablc 4

we

combined 9 studies on

P

OP po

l

ymorphism

in Germany. The combined

studies include

10524 i

ndividuals

and

show

t

he distribution of

ph

enotypes

in

Germany.

There

is

a

good agreement between observed and expected

vaıues.

In

Table 5 we

listed

all publishe

d

studies

on

POP polymorphism.There is

more

agreement in

t

he gene freq

u

ences between

the

larger than in

the s

ma

ller s

tud

ies.

Not

hsred

are

t

he

studies

of Caeiro and Varela (16) and

Amorin et al

(17).

DISCUSS

I

ON

Though

the

POP t

yping

by

means

o

f

starch gel

electrophoresis

may

not

have

been

optima

l there

a

r

e

no

difficulties for a proficient

examine

r

to di

stinguish

th

e

different

phenotypes. Bu

t it

İ:,;

absolutely

nece

ssary

to

use a wellknown

POp

l-3

as

control.

Tablc 1. Phcnotype and gene frequencies of PGP in the Düsseldorf population

observed expectcd Phenolype n % n % PGl'! lln 74.08 1171.7 74.07 PGl' 2·) 261 16.50 262.5 16.59 l'GP 2 18 1.14 14.7 .93 PGP 3·2 8 .51 13.1 .83 PGP 3·1 LLS 7.46 117.0 7.40 PGP 3 5 .32 2.9 .18 Total 1582 1oo.oı 1581.9 100.00 Gene frequencics: pGpı .8606 pGP2 .0964 PGP3.0424

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142 W. HUCKEN13ECK, P. fREUDENSTEIN, W. 130NTE, J. BARZ

When adding the

last nine

studies

of

Tablc S data

of

LOS24 exa

m

ine

d

i

n

dividuals

have

been published

in Germany. Beeause

of its AV

ACH

-value

(more than 1

2 'lo)

PGP

is

a uscful marker

in

paternity

testing

.

Our

in

vestigation

of 688 mother

-eh

ild

pai

r

s

agrees with

the data reported by other authors (Table S).

Thus

om results confirm

the

for

mal

h

ypoth

es

i

s,

tha

t

PGP

p

oly

morph

ism is eontrolled by three codominant alle

les at

an

au

tosoma

ll

oc

us.

T

he

analysis

of

th

e

"cri

ticai"

mo

t

h

e

r-eh

ü

d

pairs

did not

s

how

any

dev

iation trom

Mendelian pro

po

rtio

ns-sueh

a

s

the oth

e

r

hs

t

ed

studies

did

(Tabı

e S).

Only

in

one ease a "silent" allele

was

fou

nd

(l

l

).

Mother 2-1 2 3-2 3-1 3

Table 2. PGP phcnotypes in 688 mother-child pairs in Düsseldorf

1 431 50 27 2-1 44 57 10 ı 5 Child 2 3-2 6 3 2 3-1 16 2 5 28 i 3 n 491 LLS 10 6 62 i

H

enke

et

al (IS)

reported

about a low frequency ofPGP3

in Düsseldorf,

signifieantly

lower than

in

Bonn

(1

8).

We eannQt

s

uppo

rt

this suggestion. The PGP3 frequency

re

ported

by Brink et

al (18)

i

s

hig

h

-poss

ib

l

y

due

to

the small

num

ber

of

inve

s

tigated

eas

es

-b

ut

the PGP

frcquencies

in

Dü

sseld

orf are vcry

s

imilar

to

those

in

other

counti

es

of

Germa

ny

(Tab

I

e

1,3,4,S).

Table 3. Combined phenotype and gene frequencies of PGP in the Düsseldorf population (Henkc, Basler and Baur (15) / this study)

n % l'henotype expcctcd PGpı ₁₅₈₂ _1579.23 _73.75 PGP 2-1 374 375.82 17.44 PGP 2 26 22.36 1.21 PGP 3-2 12 17.46 .56 PGP 3-1 ₁₄₃ _146.73 _6.67 PGP 3 8 3.41 .37 - _.

__

.. -ıota! 2145 2145.00 100.00 Gene frcqucncies: PGpı .8580 PGP2.1020 PGP3.0400 expcctcd 73.62 17.52 1.04 .81 6.84 .16 99.99

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Phenolypf' PGpı PGP 2·1 FGP 2 PGP 3·2 PGP 3·1 PGP 3 total 7717 1877 128 10524 Gene freguencics: PGPl

Counıry Refcren ces

Greal Britiiii _(U)

Bulgaria ₍₁₉₎ Hungaria ₍₂₀₎ Swiızcrland ₍₂₁₎ Soıııhem Germany ₍₁₇₎ Schlcswiı;. (22) Münstcrland, (Zı) NRW,FEC _(ll) Düsseldorf, FRG _(15.24) Bonn, FRG ₍₁₈₎ Berlin _(2'i) Berlin ₍₁₁₎ Schleswi)C. ₍₂₆₎

Düsseldori _{this study}

cxpected 7694.98 73.33 1906.00 17.84 118.03 1.23 86.94 702.03 6.SJ 16.01 .l _ ..

__

. _ -10523.90 100.02 .8551 PGP2.1059 PG!,3.0039 studies on !_".'ivınorphism n PGPl PGP 2 656 .129 800 .1038 942 .885 .089 900 .8889 .0889 544 .870 .100 1101 .1109 369 .106 5000 .1040 563 .851 .118 176 .8233 .1228 429 .R59 .106 353 .106 960 .1177 1582 .ilGlX) .0964 expected 73.12 18.11 !.il .83 6.67 .15 100.00 PGP 3 .045 .0250 .027 .0222 .030 .0249 .027 .0422 .031 .0539 .035 .0368 .0412 .0424

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will be communicated Haemogenelics, 19·21 Ocl. in New Orleans, USA.

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20

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Rcprints req'H;si

Dr. W. Huekenbcck Institute of Moorensstra&: 4000 Düsseldorf