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Date:         Thu, 21 Jan 1993 17:49:00 EST
Reply-To:     SLR2@CCDDCD1.EM.CDC.GOV
From:         SLR2@CCDDCD1.EM.CDC.GOV
Subject:      Pest house > Infection > Genetics
Comments: To: ROOTS-L@VM1.NoDak.EDU

>>>  Lincoln was such a great man in many ways and I find it interesting that
>>>  some of our great contributors came from families with some genetic
>>>  problems. For instance, Beethoven's siblings had all kinds of problems,
>>>  including TB, blindness, etc.

The risk involved in uncontrolled infectious disease, such as tuberculosis
(TB), is strikingly illustrated by the entries on the church register at
Straford-on-Avon.  At that cultural shrine is a church register with the
record of the birth of William Shakespeare.  Several lines above may be seen
the entry "juli 11, 1564, Oliverus Gume -- hic incipit pestis [here began
the plague]."  During the year 1564, that village suffered 242 deaths from
plague.  It is speculated that this represented 1/3 to 1/2 of the village
population.  During the upswing of the epidemic, there was born a helpless
infant who easily could have been one of those affected but who, by chance
alone, was spared, subsequently to give us some of civilization's greatest
cultural treasures.  If Shakespeare had become infected with plague and died,
where would we be now?

Mozart, Chopin, and many other great figures in the arts and sciences died at
early ages from tuberculosis; and Schumann and numerous other notable persons
died from typhoid fever.

For hereditary or congenital defects, one can look to the following figures
of history and culture.  Steinmetz was a congenital cripple and Toulous
Lautrec was afflicted with hereditary osteochondritis fragilis.  The Empress
Alexandra (granddaughter of Queen Victoria and wife of Tsar Nicholas II of
Russia), was a carrier of the hemophilia-A (or Royal hemophilia) mutation,
and her son, Tsarevich Alexis, was afflicted with hemophillia.  As a matter
of fact, Queen Victoria's son, Leopold Duke of Albany (1853-1884), was
afflicted with hemophilia A.  Hemophilia is found among some later decendants
of Leopold.  Where Queen Victoria's hemophilia-A mutation came from is not
known.  She herself was carrier, but her father was completely normal and
nothing in her mother's pedigree suggests that the hemophilia gene was
present.  In the 5 generations since Queen Victoria, 10 of her male
descendants have had the disease.  Virtually all died very young.  Those who
survived childhood often died in their 20's or early 30's usually from
excessive bleeding following injuries.  The Tsar and Empress were very
preoccupied with Alexis' health (remember Rasputin?).  Some historians argue
that the Tsar's preoccupation with Alexis' health contributed to the neglect
of the Russian empire that ultimately brought on the Bolshevik Revolution in
1917.

Human genetics is a subject of personal interest to many people, especially
those who are affected with some inherited disorder or who have affected
relatives.  Disorders that can be traced in part to genetic factors are
relatively common.  Indeed, few families are entirely free of such common
conditions as high blood pressure, diabetes, schizophrenia, mental
retardation, epilepsy, stuttering, certain forms of deafness, and color
blindness --- conditions that are caused in at least in part, if not in
whole, by genetic factors.  The occurance of an inherited disorder in a
family often evokes feelings of guilt or personal inadequacy on the part of
the parents, and it often creates anxiety in the unaffected relatives because
they might be carriers of the same genes.  Such guilt and anxiety can be
counteracted only by an adequate understanding of the principles of human
genetic inheritance together with the facts pertaining to the genetic basis
of the particular condition in question (for example:  Marfan's syndrome).

Not only is human genetics of interest to each of us as individuals, but the
subject has wider social implications.  In the early years of the 20th
century, genetic knowledge was misused.  In those years, there developed a
politically powerful eugenics movement -- a pseudoscientific movement that
aimed to "improve" the "genetic quality" of human beings.  The eugenics
movement demonstrated its polical clout in the United States with the passage
of the Immigration Restriction Act of 1924, which was designed to limit the
immigration of ethnic minorities from southern and eastern Europe on the
grounds that the "Nordic" types from nothern and western Europe were
genetically superior.  I thank God that my relatives and in-laws managed to
immigrate here before 1924, because many of them would have been deemed less
desirable "non-Nordic" types by the US in 1924.  That designation would have
meant that the US would not have received persons eager to be citizens and
who would go on in the US to practice medicine, establish successful
small businesses, raise responsible children, gain college educations, fight
for the US in war time, and contribute to the arts and culture as
photographers shown in the National Gallery, and as first chair violists in
various cities' symphony orchestras.  I cannot begin to imagine or estimate
the losses suffered by the US after the 1924 IR act was in place.

In US state legislatures, eugenicists pushed for the passage of laws for the
forcible sterilization of "hereditary defectives", "sexual perverts", "drug
fiends", "drunkards", "prostitutes", and others.  In 1907, Indiana became the
first state to adopt such a compulsory sterilization law, but by 1930, the
majority of states had adopted such measures.  Luckily, these laws were
largely ignored by public officials in most of the US.  In California,
however, where the eugenics movement was particularly influential, at least
10,000 men and women were involuntarily sterilized.

The eugenics movement was worldwide, with centers of activity in Japan and
Western Europe, as well as the US.  The Eugenics Sterilization Law of 1933 in
Nazi Germany ultimately led to the compulsory sterization of at least 250,000
men and women deemed "hereditarily defective".  Toward the end of the Nazi
regime, compulsory sterilzation was dispensed with, and millions of people
were killed, including some of my ancestors and my in-laws who were unable to
escape the concentration camps.  It reminds us today of the "ethnic
cleansing" in Bosnia-Hertzogovenia.

In the US and elsewhere, reputable geneticists were cowed into silence by the
power of the eugenics movement and were rendered ineffectual.  Ordinary
citizens were largely ignorant of the principles of human genetics, so the
eugenecists controlled events.  Even today, a surprising amount of eugenics
nonsense is found in the public press.  Hopefully, an educated public
(including us genealogists) will prevent a recurrance of the tragedies that
grew out of the eugenics movement.

In short, a knowledge of human genetics serves a social function in allowing
people to recognize and thwart those who would misuse genetics for their own
ends and prejudices.  As mentioned above, knowledge of genetics also
satisfies a private interest.  Who has never wondered (or indeed worried)
about his or her own personal hereditary endowment?  As it happens, much of
what is known about human genetics has come from the study of genetic
abnormalities and diseases.  No family is "immune" from actual or potential
genetic misfortune.  Sometimes when you read an example of a genetic disease,
it may remind you of situations in your own family, among your relatives, or
among your friends.

Here are some patterns of transmission in genetic disorders:

AUTOSOMAL RECESSIVE
    Hartnup disease
    Xeroderma pigmentosum
    Congenital afibrinogenemia
    Congenital virilizing adrenal hyperplasia
    Fabry's disease
    Galactosemia
    Niemann Pick disease
    Retinitis pigmentosa
    Thalassemia
    Cystic fibrosis
    Familial emphysema
    Tay-Sach's disease
    Cystinuria
    Cretinism
    Phenylketonuria  (PKU)
    Albinism
    Fanconi's syndrome
    Sickle cell anemia

CHROMOSOMAL
    Turner's syndrome (XO syndrome)
    Trisomy 13 (Patau syndrome)
    Trisomy 18 (Edward's syndrome)
    Trisomy 21 (Down's syndrome)
    Klinefelter's syndrome (XXY)
    Trisomy X (XXX)
    Hermaphroditism
    Cri du chat syndrome (5p-syndrome; Lejeune syndrome)
    Double-Y syndrome (XYY)
    18p- syndrome
    18q- syndrome

AUTOSOMAL DOMINANT
    Achondroplastic dwarfism
    Colorectal polyposis
    Familial nonhemolytic jaundice
    Renal glycosuria
    Spherocytosis
    Pituitary diabetes insipidus
    Hyperlipidemias / familial hypercholesteremia
    Polydactyly (extra fingers)
    Brachydactyly (very short fingers, relative to thumb)
    Neurofibromatosis
    Huntington's disease
    Osteogenesis imperfecta
    Retinoblastoma
    Marfan's syndrome
    Hereditary hemorrhagic telangiectasia
    Target-cell anemia
    Periodic paralysis
    Otosclerotic deafness

X-LINKED
    Some immunodeficiencies
    Pseudohypoparathyroidism
    G 6-PD deficiency (favism)
    Hemophilia
    Duchenne-type muscular dystrophy
    Lesch-Nyhan syndrome  (HGPRT deficiency)
    Red-green color blindness
    Testicular-feminization syndrome
    Andrenogenital syndrome

MULTIFACTORIAL (POLYGENIC)
    Rheumatoid arthritis
    Diabetes mellitus (some cases)
    Congenital heart anomalies
    Neural tube anomalies
    Mental retardation (some cases)
    Cleft lip (harelip)/palate
    Hypertension
    Bronchial asthma
    Cancer (some forms)
    Manic-depressive psychosis
    Gout

OTHER COMMON GENETIC ABNORMALITIES (probably MULTIFACTORIAL):
    Psoriasis
    Hydrocephalus
    Exomphalos
    Epilepsy
    Rheumatic fever (risk thereof - greater suseptibility to infectious agent)
    Situs inversus viscerum
    Celiac disease
    Patent ductus
    Clubfoot
    Anencephaly
    Spina bifida aperta
    Pyloric stenosis
    Strabismus
    Congenital dislocated hip
    Multiple sclerosis
    Deaf-mutism
    Microphthalmos
    Hirschsprung disease
    Osteogenesis imperfecta


Some relatively common simple genetic traits found in humans:

    Common baldness (Pres. Eisenhower, Pres. John Adams) - M-shaped hairline
                  receeding with age
    Chin fissure (Kirk Douglas) - vertical cleft or dimple in chin
    Ear pits - tiny pit in external ear
    Darwin tubercle - Extra cartilage on rim of external ear
    Ear cerumen (wax) - wet and sticky ear wax versus dry and crumbly ear wax
    Congenital ptosis - droopy eyelid
    Epicanthus - fold of skin near bridge of nose leading to almond-shaped
                 eyes
    Camptodactyly - crooked little finger due to a too short tendon
    Mid-digital hair - hair growth on middle segment of fingers
    Phenylthiocarbamide tasting - ability to taste phenylthiocarbamide;
                 tasters report it as bitter.
    S-methyl thioester detection - detection of smell of odeferous substances
                 excreted in urine after eating asparagus
    ABO blood group - Type A versus Type B versus Type O versus Type AB
    Rh blood group - Type Rh+ (positive) versus Rh- (negative)
    Hairy ears - a Y-linked trait; growth of stiff hair an inch or longer on
                 outer rim of the ears of males after age 20.
    Free versus attached earlobes
    Hitch-hikers' thumb (curving versus straight thumb when thumb is extended)