1
1M
CB
140
12-
4-06
Nos
ce te
ipsu
m:
the
hum
an g
enom
eP
art I
I: ge
netic
s, d
iagn
ostic
s, a
nd
gene
ther
apy
of in
herit
ed d
isea
se
2M
CB
140
12-
4-06
Impo
rtant
dis
tinct
ion
1.“M
onog
enic
dis
orde
rs” –
hum
an d
isea
ses
who
se
etio
logy
can
in s
ome
mor
e or
less
line
ar fa
shio
n be
tra
ced
to a
sin
gle-
locu
s ge
netic
lesi
on.
2.D
isea
ses
with
a “g
enet
ic
com
pone
nt” o
r a “g
enet
ic
pred
ispo
sitio
n” –
diso
rder
s th
at m
anki
nd is
kno
wn
to b
e ge
netic
ally
pol
ymor
phic
for
(in te
rms
of s
usce
ptib
ility
) at
mul
tiple
loci
.3.
All
othe
r dis
ease
(tha
t may
or
may
not
be
trans
crip
tion
base
d).
1.P
heno
men
a af
fect
ing
ploi
dy (e
.g.,
aneu
ploi
dies
suc
h as
D
own,
Edw
ards
, Tur
ner,
Klin
efel
ter)
.2.
Phe
nom
ena
affe
ctin
g ch
rom
osom
e st
ruct
ure
(e.g
., tra
nslo
catio
ns in
le
ukem
ia).
3.P
heno
men
a af
fect
ing
sing
le lo
ci (g
enes
or
rela
tivel
y sm
all
chro
mos
omal
se
gmen
ts).
3M
CB
140
12-
4-06
Arc
hiba
ld G
arro
d (1
902)
Hig
her f
requ
ency
of c
hild
ren
with
alk
apto
nuria
(urin
e tu
rns
dark
on
stan
ding
and
alk
alin
izat
ion)
from
con
sang
uine
ous
mar
riage
s.W
hy?
“The
re is
no
reas
on to
sup
pose
that
mer
e co
nsan
guin
ity o
f pa
rent
s ca
n or
igin
ate
such
a c
ondi
tion
as a
lkap
tonu
ria in
th
eir o
ffspr
ing,
and
we
mus
t rat
her s
eek
an e
xpla
natio
n in
so
me
pecu
liarit
y of
the
pare
nts,
whi
ch m
ay re
mai
n la
tent
fo
r gen
erat
ions
… It
has
rece
ntly
bee
n po
inte
d ou
t by
Bat
eson
that
the
law
of h
ered
ity d
isco
vere
d by
Men
del
offe
rs a
reas
onab
le a
ccou
nt o
f suc
h ph
enom
ena.
…””
http
://w
ww
.esp
.org
/foun
datio
ns/g
enet
ics/
clas
sica
l/ag-
02.p
df
Gar
rod
(190
2) L
ance
t 2: 1
16.
4M
CB
140
12-
4-06
Gar
rod
(190
2) L
ance
t 2: 1
16.
2
5M
CB
140
12-
4-06
Sic
kle-
cell
anem
ia –
a br
ief h
isto
ry“In
the
wes
tern
lite
ratu
re, t
he fi
rst
desc
riptio
n of
sic
kle
cell
dise
ase
was
by
a C
hica
go p
hysi
cian
, Ja
mes
B. H
erric
k, w
ho n
oted
in
1910
that
a p
atie
nt o
f his
from
th
e W
est I
ndie
s ha
d an
ane
mia
ch
arac
teriz
ed b
y un
usua
l red
ce
lls th
at w
ere
sick
le-s
hape
d.”
By
1923
, it w
as re
aliz
ed th
e co
nditi
on is
her
edita
ry.
In 1
949,
Nee
l rea
lized
that
pa
tient
s w
ith S
CA
are
ho
moz
ygou
s, a
nd h
eter
ozyg
ous
carri
ers
have
a m
uch
mild
er
cond
ition
(sic
kle
cell
trait)
.
6M
CB
140
12-
4-06
Sic
kle
cell
anem
iaN
IH:
“Sic
kle
cell
anem
ia is
the
mos
t co
mm
on in
herit
ed b
lood
di
sord
er in
the
Uni
ted
Sta
tes,
af
fect
ing
abou
t 72,
000
Am
eric
ans
or 1
in 5
00 A
frica
n A
mer
ican
s. S
CA
is
char
acte
rized
by
epis
odes
of
pain
, chr
onic
hem
olyt
ic a
nem
ia
and
seve
re in
fect
ions
, usu
ally
be
ginn
ing
in e
arly
chi
ldho
od.”
7M
CB
140
12-
4-06
Linu
s P
aulin
g, 1
949:
HbS
has
diff
eren
t cha
rge!
!
8M
CB
140
12-
4-06
V. I
ngra
m, N
atur
e 19
56“O
n [th
e ex
istin
g] e
vide
nce
alon
e, it
is n
ot p
ossi
ble
to
deci
de w
heth
er th
e di
ffere
nce
betw
een
the
prot
eins
, w
hich
is in
any
eve
nt s
mal
l, lie
s in
the
amin
o-ac
id
sequ
ence
s of
the
poly
pept
ide
chai
ns, o
r whe
ther
it li
es
in th
e fo
ldin
g of
thes
e ch
ains
lead
ing
to th
e m
aski
ng o
f so
me
amin
o-ac
id s
ide
chai
ns.”
Exp
erim
ent:
1.D
iges
t Hb
A a
nd H
b S
with
tryp
sin
(pro
teas
e –
cuts
he
mog
lobi
n in
to ~
30 p
eptid
es).
2.S
epar
ate
resu
lting
frag
men
ts b
y el
ectro
phor
esis
, and
th
en b
y ch
rom
atog
raph
y.3.
Trac
e th
e pe
ptid
e m
ap.
V. I
ngra
m (1
956)
Nat
ure
178:
792
.
3
9M
CB
140
12-
4-06
V. I
ngra
m (1
956)
Nat
ure
178:
792
.10
MC
B 1
40 1
2-4-
06
“One
can
now
ans
wer
at l
east
par
tly th
e qu
estio
n pu
t ear
lier,
and
say
ther
e th
ere
is a
di
ffere
nce
in th
e am
ino-
acid
seq
uenc
e in
on
e sm
all p
art o
f one
of t
he p
olyp
eptid
e ch
ains
. Thi
s is
par
ticul
arly
inte
rest
ing
in v
iew
of
the
gene
tic e
vide
nce
that
the
form
atio
n of
hem
oglo
bin
S is
due
to a
mut
atio
n in
a
sing
le g
ene.
”
V. I
ngra
m (1
956)
Nat
ure
178:
792
.
11M
CB
140
12-
4-06
11.7
12M
CB
140
12-
4-06
SC
A1.
Fairl
y ho
mog
eneo
us g
enet
ic b
asis
–an
A-to
-T
trans
vers
ion
in th
e si
xth
codo
n of
the
HB
B g
ene
that
le
ads
to a
glu
→va
l sub
stitu
tion
(→R
FLP
!)2.
In N
orth
Am
eric
a, h
eter
ozyg
osity
for m
utan
t alle
le is
la
rgel
y as
ympt
omat
ic (s
ickl
e ce
ll tra
it), b
ecau
se
conc
entra
tion
of h
emog
lobi
n S
is n
ot h
igh
enou
gh fo
r th
e er
ythr
ocyt
es to
sic
kle.
3.In
are
as w
ith h
igh
inci
denc
e of
mal
aria
, the
fitn
ess
of
hete
rozy
gote
s is
gre
ater
than
of n
onca
rrie
rs o
r affe
cted
in
divi
dual
s (o
verd
omin
ance
) bec
ause
car
riers
are
re
lativ
ely
mal
aria
-res
ista
nt, e
xpla
inin
g th
e hi
gh
frequ
ency
of t
his
alle
le.
4.Th
erap
y –
hydr
oxyu
rea
(wak
es u
p em
bryo
nic
and
feta
l gl
obin
gen
es),
mor
phin
e fo
r the
pai
n, a
nd p
roph
ylac
tic
peni
cilli
n. “S
ickl
e ce
ll an
aem
ia. A
sim
ple
dise
ase
with
no
cur
e” (N
atur
e 19
89).
4
13M
CB
140
12-
4-06
“Fun
ctio
nal c
loni
ng”
In th
e ca
se o
f alk
apto
nuria
, sic
kle
cell
anem
ia, a
nd b
lood
clo
tting
dis
orde
rs s
uch
as h
emop
hilia
, th
e di
seas
e ge
nes
is
iden
tifie
d ba
sed
on s
ome
bioc
hem
ical
or
othe
r def
ect e
xhib
ited
by th
e pa
tient
.W
hat i
f the
def
ect c
anno
t be
trace
d in
a
sim
ple
way
to a
bio
chem
ical
ph
enom
enon
?
14M
CB
140
12-
4-06
Cys
tic fi
bros
is
•M
ost c
omm
on m
onog
enic
aut
osom
al
hum
an g
enet
ic d
isor
der –
1 in
eve
ry 2
000
live
birth
s.•
q2=0
.05%
; q=2
.2%
; p=9
7.8%
; 2pq
=4%
car
riers
.•
Com
plex
dys
func
tion
of th
e lu
ngs
and
the
panc
reas
.
15M
CB
140
12-
4-06
Life
exp
ecta
ncy
of C
F pa
tient
s
16M
CB
140
12-
4-06
Map
ping
by
linka
ge(“
posi
tiona
l clo
ning
”)If
a gi
ven
mar
ker i
s lin
ked
(=is
on
the
sam
e ch
rom
osom
e as
) to
the
gene
mut
atio
ns in
w
hich
cau
se a
cer
tain
dis
ease
, the
n on
e sh
ould
be
able
to o
bser
ve c
oinh
erita
nce
of
som
e al
lelic
form
of t
hat m
arke
r to
the
occu
rrenc
e of
the
dise
ase.
“Coi
nher
itanc
e” =
occ
urre
nce
in g
enot
ype
of
two
loci
with
a fr
eque
ncy
high
er th
an
Men
del’s
sec
ond
law
allo
ws.
5
17M
CB
140
12-
4-06
11.1
718
MC
B 1
40 1
2-4-
06
Men
del’s
sec
ond
law
19M
CB
140
12-
4-06
4.17
20M
CB
140
12-
4-06
6
21M
CB
140
12-
4-06
Ver
y si
mpl
e an
d as
toni
shin
gly
influ
entia
l con
sequ
ence
of a
ll th
is s
tuff
Two
mar
kers
loca
ted
on d
iffer
ent
chro
mos
omes
will
segr
egat
e aw
ay fr
om
each
oth
er in
one
out
of t
wo
mei
oses
.
Two
mar
kers
that
are
on
the
sam
e ch
rom
osom
e w
ill te
nd to
sta
y to
geth
er.
22M
CB
140
12-
4-06
Fig.
1 N
olan
Nol
an e
t al.
Nat
. Gen
et. (
2000
). 25
: 440
.
a, N
anom
ouse
(Nan
o),
GE
NA
50. b
, Dom
inan
t sp
ottin
g (K
itW-3
9H),
GE
NA
133.
c, A
m
icro
phth
alm
ia m
utan
t, G
EN
A16
3. d
,e, B
atfa
ce, a
cr
anio
faci
al m
utan
t, G
EN
A12
3.
23M
CB
140
12-
4-06
Will
iam
Ern
est C
astle
–fo
unde
r of
mou
se g
enet
ics
1.In
bree
ding
as
a to
ol fo
r mak
ing
gene
tical
ly
unifo
rm s
train
s of
mic
e th
at a
re h
omoz
ygou
s fo
r ev
ery
alle
le in
the
geno
me.
2.B
roth
er-s
iste
r mat
ings
–m
akes
12.
5% o
f all
loci
in
the
geno
me
hom
ozyg
ous
(Cla
renc
e Li
ttle)
.
Afte
r 40
gene
ratio
ns o
f bro
ther
-sis
ter m
atin
g,
>99.
98%
of g
enom
e is
hom
ozyg
ous.
By
F 60,
mic
e ar
e co
nsid
ered
gen
etic
ally
iden
tical
to o
ne a
noth
er.
24M
CB
140
12-
4-06
11.1
2
7
25M
CB
140
12-
4-06
A B
C D
A B
C D
E F
G H
E F
G H
I J
K
L
I J
K
L
1
2
3
♂ ♀
26M
CB
140
12-
4-06
A B
C D
A B
C D
E F
G H
E F
G H
I J
K
L
I J
K
L
1
2
3
♂ ♀
x
27M
CB
140
12-
4-06
A B
C D
A B
C D
E F
G H
E F
G H
I J
K
L
I J
K
L
♂ ♀
x
Xa
b c
d
a b
c d
e f
g
h
e f
g
h
i j
k
l
i j
k
l
♂ ♀
28M
CB
140
12-
4-06
A B
C D
a b
c
d
E F
G H
e f
g
h
I J
K
L
i j
k
l
♂ ♀
x
Xa
b c
d
a b
c d
e f
g
h
e f
g
h
i j
k
l
k l
m n
♂ ♀
8
29M
CB
140
12-
4-06
A B
C D
a b
c
d
E F
G H
e f
g
h
I J
K
L
i j
k
l
♂ ♀
x
meiosis
Dur
ing
mei
osis
, the
re is
a 5
0% c
hanc
e th
at th
e m
utan
t gen
e w
ill s
epar
ate
from
al
l mar
kers
on
unlin
ked
chro
mos
omes
. Thi
s m
eans
that
ther
e is
an
equa
l lik
elih
ood
of fo
rmin
g a
gam
ete
“X E
” and
“X e
” –si
mila
rly, “
X J
” and
“X j.
”
On
the
othe
r han
d, th
e m
utan
t gen
e w
ill n
ot s
epar
ate
as fr
eque
ntly
from
m
arke
rs th
at li
e on
the
sam
e ch
rom
osom
e as
it d
oes.
In o
ther
wor
ds, t
he “X
B”
gam
ete
will
be
mor
e fre
quen
t tha
n th
e “X
b” g
amet
e. T
o id
entif
y,on
whi
ch
chro
mos
ome,
and
whe
re e
xact
ly, t
he m
utan
t gen
e lie
s, w
e ne
ed to
find
the
spec
ific
mar
ker t
hat t
he d
isea
se a
lway
s in
herit
s w
ith.
30M
CB
140
12-
4-06
A B
C D
a b
c
d
E F
G H
e f
g
h
I J
K
L
i j
k
l
♂ ♀
x
Xa
b c
d
a b
c d
e f
g
h
e f
g
h
i j
k
l
k l
m n
♂ ♀
31M
CB
140
12-
4-06
Fina
lly
Take
all
the
mut
ant c
hild
ren.
Gen
otyp
e th
em fo
r mar
kers
ove
r the
ent
ire
geno
me.
Find
the
“upp
erca
se m
arke
r” th
at o
ccur
s w
ith th
e hi
ghes
t fre
quen
cy (>
>>50
%) i
n th
e m
utan
t chi
ldre
n.
32M
CB
140
12-
4-06
A B
C D
a b
c
d
E F
G H
e f
g
h
I J
K
L
i j
k
l
♂ ♀
xx
9
33M
CB
140
12-
4-06
34M
CB
140
12-
4-06
5.12
35M
CB
140
12-
4-06
Pro
blem
Hum
ans
are
not D
roso
phila
or m
ouse
.
To m
ap g
enet
ic d
ista
nce,
one
nee
ds to
“set
up
cro
sses
” with
kno
wn
arra
ngem
ents
of
geno
type
s.
36M
CB
140
12-
4-06
The
Pro
blem
of P
hase
In h
uman
ped
igre
es, y
ou c
anno
t “se
t up
a cr
oss”
th
e w
ay y
ou w
ant t
o! E
ven
in a
sim
ple
cros
s:♂
AaBb
×♀
aabb
… y
ou re
ally
nee
d to
kno
w w
heth
er D
ad w
as
AB
/ab
or A
b/aB
in o
rder
to c
alcu
late
map
di
stan
ces
(you
nee
d to
tell
whi
ch c
hild
is
reco
mbi
nant
and
whi
ch o
ne is
n’t!!
!)
AB
ab
Ab
aB
OR
10
37M
CB
140
12-
4-06
11.1
838
MC
B 1
40 1
2-4-
06
Lod
scor
es a
nd m
appi
ng b
y lin
kage
Sol
utio
n: c
alcu
late
loga
rithm
of t
he o
dds
(lod)
that
the
pedi
gree
obs
erve
d is
due
to li
nkag
e.
For a
ny g
iven
trai
t (di
seas
e) a
nd a
ny g
iven
mar
ker b
eing
tra
cked
in th
e pe
digr
ee, t
he L
od s
core
is th
e lo
g 10
of th
e fo
llow
ing
ratio
:pr
obab
ility
that
this
ped
igre
e w
ould
be
obse
rved
if th
e tw
o lo
ci a
re li
nked
, and
are
sep
arat
ed b
y a
certa
in g
enet
ic
dist
ance
DIV
IDE
D b
y pr
obab
ility
this
ped
igre
e w
ould
be
obse
rved
if th
e tw
o lo
ci w
ere
unlin
ked.
Two
loci
are
link
ed if
the
lod
scor
e >
3B
y th
e w
ay –
a lo
garit
hm is
take
n so
that
we
can
add
lod
scor
es o
btai
ned
from
diff
eren
t fam
ilies
!!
39M
CB
140
12-
4-06
p. 3
92-3
9340
MC
B 1
40 1
2-4-
06
Whi
te e
t al (
1985
) Nat
ure
318:
382
.A
RFL
P li
nked
to C
F!!!
–“m
iddl
e th
ird o
f 7q,
nea
r met
”
11
41M
CB
140
12-
4-06
Find
ing
the
CF
gene
•Li
nkag
e an
alys
is p
lace
d th
e C
F ge
ne in
a
rath
er la
rge
(1.5
Mb)
frag
men
t of
chro
mos
ome
7 (n
ext t
o m
et)
•“J
umpi
ng a
nd w
alki
ng” –
Rom
men
s et
al
(Col
lins)
Sci
ence
245
: 105
9 (1
989)
.
42M
CB
140
12-
4-06
43M
CB
140
12-
4-06
CFT
R
•La
rge
gene
(250
kb)
•La
rge
prot
ein
(1,4
80 a
a)•
cAM
P-re
gula
ted
chlo
ride
chan
nel
•70
% o
f mut
atio
ns –
∆phe
508
(pro
tein
st
uck
in th
e E
R)
Bre
nnan
and
Ged
des
(200
2) C
urr.
Opi
n. In
fect
. Dis
. 15:
175
-182
.44
MC
B 1
40 1
2-4-
0611
.22
12
45M
CB
140
12-
4-06
11.2
246
MC
B 1
40 1
2-4-
06
Gen
e th
erap
y fo
r CF?
2002
:“S
ince
the
clon
ing
of th
e cy
stic
fibr
osis
gen
e (C
FTR
) in
1989
, 18
clin
ical
tria
ls h
ave
been
car
ried
…. M
ost t
rials
dem
onst
rate
d pr
oof-o
f-prin
cipl
e fo
r ge
ne tr
ansf
er to
the
airw
ay. H
owev
er, g
ene
trans
fer e
ffici
ency
… w
as lo
w, a
nd m
ost l
ikel
y in
suffi
cien
t to
achi
eve
clin
ical
ben
efit.
A m
ajor
func
tion
of th
e ai
rway
epi
thel
ium
is to
pr
even
t upt
ake
of fo
reig
n m
ater
ials
, inc
ludi
ng g
ene
trans
fer a
gent
s.”
Qua
si-s
ucce
ss –
rela
tive
of H
IV in
an
Ebo
la c
oat!
Grie
senb
ach
et a
l. (2
002)
Gen
e Th
er. 9
: 134
4.
47M
CB
140
12-
4-06
48M
CB
140
12-
4-06
The
“kno
ckou
t” m
ouse
A m
ouse
gen
otyp
ical
ly u
nifo
rm a
nd
hom
ozyg
ous
for a
n am
orph
ic (f
ull n
ull)
alle
le
of a
gen
e of
cho
ice.
13
49M
CB
140
12-
4-06
Em
bryo
nic
stem
cel
ls
50M
CB
140
12-
4-06
Ann
u. R
ev. C
ell D
ev. B
iol.
2001
. 17:
435-
462.
EM
BR
YO
-DER
IVED
STE
M C
ELLS
: Of M
ice
and
Men
A
ustin
G. S
mith
51M
CB
140
12-
4-06
52M
CB
140
12-
4-06
Pos
itive
-neg
ativ
e se
lect
ion
(Mar
io C
apec
chi,
1989
)N
on-H
R e
vent
s ar
e M
AS
SIV
ELY
mor
e fre
quen
t tha
n H
R e
vent
s.↓
Two
sequ
entia
l sel
ectio
n ev
ents
to e
limin
ate
all c
ells
that
und
erw
ent n
on-H
R o
r no
reco
mbi
natio
n at
all,
and
PR
ES
ER
VE
thos
e ce
lls th
at u
nder
wen
t HR
.
“Tar
getin
g co
nstru
ct”
14
53M
CB
140
12-
4-06
54M
CB
140
12-
4-06
55M
CB
140
12-
4-06
56M
CB
140
12-
4-06
15
57M
CB
140
12-
4-06
58M
CB
140
12-
4-06
Mou
se m
odel
?
p. 8
57: “
Ani
mal
s ho
moz
ygou
s fo
r the
CFT
R
knoc
kout
alle
le d
ispl
ay a
mut
ant
phen
otyp
e th
at is
ver
y si
mila
r to
that
ex
pres
sed
by h
uman
s su
fferin
g fro
m c
ystic
fib
rosi
s.”
I beg
you
r par
don?
59M
CB
140
12-
4-06
And
now
, the
trut
h
“The
airw
ays
of C
F m
ice
are
of o
bvio
us in
tere
st to
in
vest
igat
ors
beca
use
~95%
of t
he m
orbi
dity
and
m
orta
lity
in C
F hu
man
s is
due
to p
ulm
onar
y m
anife
stat
ions
of t
he d
isea
se. …
In th
e C
F pa
tient
, a c
onsi
sten
t fin
ding
in th
e ai
rway
s is
m
ucus
plu
ggin
g w
ith b
acte
rial i
nfec
tion.
…In
all
CF
mou
se m
odel
s ex
amin
ed, v
irtua
lly n
orm
al
lung
his
tolo
gy a
nd a
bsen
ce o
f muc
us p
lugg
ing
are
cons
iste
nt fi
ndin
gs (3
6, 3
9, 7
0, 7
8, 9
2, 1
03,
114,
119
).”
Gru
bb a
nd B
ouch
er (1
999)
Phy
s. R
ev. 7
9: 1
93-2
14.
60M
CB
140
12-
4-06
16
61M
CB
140
12-
4-06
A re
mar
kabl
e ex
ampl
e of
a
phen
otyp
e in
a k
nock
out m
ouse
A D
efec
t in
Nur
turin
g in
Mic
e La
ckin
g th
e Im
med
iate
Ear
ly G
ene fosB
Bro
wn
et a
l.C
ell,
Vol
. 86,
297
–309
, Jul
y, 1
996
62M
CB
140
12-
4-06
63M
CB
140
12-
4-06
64M
CB
140
12-
4-06
17
65M
CB
140
12-
4-06
“Car
rier s
cree
ning
for c
ystic
fibr
osis
, Gau
cher
dis
ease
, and
Ta
y-S
achs
dis
ease
in th
e A
shke
nazi
Jew
ish
popu
latio
n: th
e fir
st 1
000
case
s at
New
Yor
k U
nive
rsity
Med
ical
Cen
ter”
By
late
199
3, th
e ge
nes
for c
ystic
fibr
osis
and
Gau
cher
dis
ease
and
the
mut
atio
ns c
omm
on a
mon
g A
shke
nazi
Jew
s ha
d be
en id
entif
ied.
In
resp
onse
to th
ese
adva
nces
, het
eroz
ygot
e sc
reen
ing
for c
ystic
fibr
osis
an
d G
auch
er d
isea
se w
as a
dded
to th
e m
ore
than
20-
year
-old
Tay
-S
achs
dis
ease
scr
eeni
ng p
rogr
am a
t New
Yor
k U
nive
rsity
Med
ical
C
ente
r, N
ew Y
ork,
NY.
… P
atie
nts
and
thei
r ref
errin
g ph
ysic
ians
wer
e in
form
ed a
bout
the
new
car
rier t
ests
. At t
he ti
me
of s
cree
ning
, pat
ient
s co
uld
choo
se th
eir t
ests
(hex
osam
inid
ase
A b
y en
zym
e an
alys
is fo
r Ta
y-S
achs
dis
ease
or m
utat
ion
anal
ysis
for c
ystic
fibr
osis
and
Gau
cher
di
seas
e). …
The
maj
ority
of A
shke
nazi
Jew
ish
patie
nts
chos
e to
hav
e te
stin
g fo
r all
3 di
seas
es. I
f the
y pr
evio
usly
und
erw
ent s
cree
ning
for
Tay-
Sac
hs d
isea
se, t
hen
they
cho
se to
und
ergo
test
ing
for c
ystic
fib
rosi
s an
d G
auch
er d
isea
se. A
ll ca
rrier
cou
ples
for e
ach
of th
ese
dise
ases
wen
t on
to h
ave
pren
atal
test
ing.
All
mix
ed-m
arria
ge c
oupl
es
in w
hom
the
Jew
ish
partn
er w
as fo
und
to b
e a
carr
ier f
or G
auch
erdi
seas
e ch
ose
to h
ave
pren
atal
dia
gnos
is. O
ne fe
tus
was
iden
tifie
d as
ha
ving
cys
tic fi
bros
is. S
ince
the
prog
ram
was
initi
ated
, no
Ash
kena
zi
Jew
ish
baby
has
bee
n bo
rn w
ith a
ny o
f the
se d
isea
ses
at N
ew Y
ork
Uni
vers
ity M
edic
al C
ente
r.
Kro
nn e
t al.
(199
8) A
rch.
Inte
rn. M
ed. 1
58: 7
77.
66M
CB
140
12-
4-06
67M
CB
140
12-
4-06
68M
CB
140
12-
4-06
