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Daltonism and Genetics

Daltonism and Genetics

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How Daltonism is onset by Genetics
How Daltonism is onset by Genetics

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Published by: Professor Stephen D. Waner on Dec 13, 2007
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HOLOGYNIC HEREDITY
PAOLO
ENRIQUES
Zstituto
di
Zoologia
e
Anatomia Comparata, Padova,
Italy
Received
August
9, 1922
Sex-linked characters in man are well known; they are all pathologicalcharacters,
so
far as known; they are transmitted according to the samelaws
as
the sex-linked characters in the little fruit-fly (Drosophila) andexplained in the same manner by means of the sex chromosome.
I
propose the name “diagynic heredity” for this kind of heredity, asthe sex-linked character is transmitted from male to male, not directly,but through the unaffected females (e. g., hemophilia, daltonism).In the currant moth
(A
raxas
grosszclariata)
the character
“lacticolor”
is
transmitted from female to female, not directly, but through the“unaffected” males. This “dia-andric heredity” is not known in man.
A
third kind of sex-linked heredity is possible. We know two pedi-grees of this kind (daltonism, hemophilia), and two new pedigrees arereferred to in this paper (hemophilia, cataract).
No
one has consideredthis special kind of heredity or noticed its theoretical and practicalimportance.For the pedigree of daltonism (CUNIER), ee
PLATE
913,
.
379.
Dalton-ism is usually diagynic; but in this pedigree
12
females are affected in
5
generations. The authors have not emphasized the circumstance that
all
the females are affected.The males are all unaffected. The transmis-sion is direct from the affected female to her daughters.In another pedigree of hemophilia (GRANDIDIER,ee
PLATE
913,
p.
379),
an affected mother has three affected daughters and no other chil-dren; her parents, according to the reference, are unaffected.
I
propose for this type of heredity the name of “hologynic heredity.“Holo-andric heredity” has not been recognized, heretofore, but inthe
Jozcrrtd
of
Heredity
for November
1921
RICHARDSCHOFIELD aspublished
a
pedigree of webbed toes with
14
affected males in
4
genera-tions (all the males) and not one female. SCHOFIELDoes not recognizein this pedigree
a
new form
of
heredity and thinks that
this
hereditarytrait
is
inherited as
a
secondary sex character. But why are
all
the malesaffected?
GENETICS
I:
583
N
1922
 
584
PAOLO ENRIQUES
This is probably the first known case of holandric heredity.Two other pedigrees of hologynic heredity will be presented here.The first is very small and concerns again hemophilia (figure
1).
In
the third generation the first daughter is probably becoming affected,but this is not yet certain.
m
Q9
FIGURE
.-Pedigree chart of a family showing hemophilia in the female line,-hologynic
hemophilia.
Much more interesting is the second pedigree,
of
senile cataract (figure
2).
My friend,
Prof.
GILBERTO
ROSSI,
he well known physiologist
in
Florence, has had the kindness to compile this pedigree and permit me
to
publish it.
I
am much indebted to him for this.
I
.i,-o-js
t45
t40
t
50-40
t68
tb
FIGURE
.-Hologynic senile cataract. The numbers indicate the age that the individual,
if
living, now has,
or
the age at death.An oblique line from left to right indicates that the individ-ual has not reached the age in which the cataract developed; from right to left that no informa-
tion
is
available as to whether the individual was affected or not; b indicates that the individualdied as a child.
 
HOLOGYNIC
HEREDITY
585
In the family of this pedigree, as the females approach the age of
50
years they expect to become affected with cataract. Really only onefemale has had the good luck to constitute an exception to this rule;she has reached
68
years with good sight. Fourteen males have arrivedat or surpassed
50
years, but not one of them has become affected.The pedigree begins with a couple of which little information aboutthe female is available, except that she died at an age
(45)
at which theaffection is not noted at all in the other females of this family. Thesister of her husband was affected.We cannot determine from this pedigree, or from the others of hologynicheredity, whether the males can be conductors;
it
is not known whetherthe cataract is brought into the family by the male of the first generationas a conductor, or by the female.Notwithstanding the fact that this pedigree is not
so
extensive as tosolve all the questions which suggest themselves, it is clear that we havebefore us here a new form of heredity.The direct transmission from female to female and the affection of
all
the females exclude it as a case of dia-andric heredity; the number of theaffected females and of the unaffected males exclude also the hypothesisthat the affection might be dominant and independent of sex.Thisaffection is usually diagynic and females are usually unaffected, foraffected females could be born only if the father is affected and themother is a conductress. But
DAVENPORT
1911)has published a pedi-gree of hemophilia with some affected females. He noted this abnor-mality, but did not point out that the method of transmission is in thiscase very different from the usual diagynic; the hemophilia is here domi-nant and independent of sex. There are two other unusual pedigrees ofhemohhilia, one
of
GRANDIDIER,
nd the one referred to in this paper(figure
1),
n which only the .females are affected.Daltonism is usually inherited as a diagynic trait; but an unusual pedi-gree is known with affected females, and in this case all the females
(12)
are affected, with direct transmission, and not one male.
It
is not admis-sible to assume that in all these cases the affection is a dominant one,independent of sex, and that by chance only females (all the females) areaffected. Such
a
possibility exists, to be sure; if we find a short pedigreeof this kind among ten thousand ordinary pedigrees of brachydactyly, forinstance, this may be by chance. But we know only three extraordi-nary pedigrees
of
hemophilia, with many affected females, and in two ofthese all the females are affected; of two cases
of
daltonism one is also ofThe same conclusion is justified in the case of hemophilia.
GENETICS
:
N
1922

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